#organization organization ID institution type street address country number of ClinVar submissions date last submitted maximum review status collection methods novel and updates clinical significance categories submitted number of submissions from clinical testing number of submissions from research number of submissions from literature only number of submissions from curation number of submissions from phenotyping OMIM; Johns Hopkins University 3 resource Baltimore, Maryland United States 31309 Jun 19, 2020 no assertion criteria provided literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign, Affects, drug response, risk factor, other, association, protective, not provided 0 0 31309 0 0 Baylor Genetics 1006 lab 2450 Holcombe, Grand Blvd. - Sample Receiving Dock, Houston, Texas, 77021-2024 United States 2643 Jun 01, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 2628 17 0 0 0 Athena Diagnostics Inc 1012 lab 200 Forest Street, 2nd Floor, Marlborough, Massachusetts, 01752 United States 13050 Sep 25, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 13050 0 0 0 0 Greenwood Genetic Center Diagnostic Laboratories; Greenwood Genetic Center 1019 lab 106 Gregor Mendel Circle, Greenwood, South Carolina, 29646 United States 96 May 14, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 93 3 0 0 0 Center for Human Genetics, Inc; Center for Human Genetics, Inc 1024 lab 840 Memorial Drive, Suite 101, Cambridge, Massachusetts, 02139 United States 1559 May 14, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1559 0 0 0 0 Clinical Molecular Genetics Laboratory; Johns Hopkins All Children's Hospital 1027 lab Saint Petersburg, Florida, 33701 United States 751 Mar 31, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 751 0 0 0 0 CHEO Genetics Diagnostic Laboratory; Children's Hospital of Eastern Ontario 1050 lab 401 Smyth Road, Ottawa, Ontario, K1H 8L1 Canada 3721 Mar 03, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 3721 0 0 0 0 Collagen Diagnostic Laboratory; University of Washington 1058 lab 1959 NE Pacific St, Room H561 Health Sciences Bldg, Seattle, Washington, 98195-7470 United States 414 Jan 11, 2019 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic 413 1 0 0 0 Clinical Molecular Diagnostic Laboratory; City of Hope National Medical Center 1082 lab 1500 E. Duarte Rd, NW Building, 2nd FL, Rm 2236, Duarte, California, 91010 United States 1 Jan 22, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Molecular Otolaryngology and Renal Research Laboratories; University of Iowa Hospital and Clinics 1119 lab 5270 CBRB; 285 Newton Road, Iowa City, Iowa, 52242 United States 1 Dec 28, 2015 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics Laboratory, Kennedy Center; Diagnostic Center, Rigshospitalet 1147 lab Glostrup, Hovedstaden, DK-2600 Denmark 503 Dec 05, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 503 0 0 0 Biesecker Lab/Clinical Genomics Section; National Institutes of Health 1160 lab Bethesda, Maryland, 20892 United States 2243 Feb 24, 2020 criteria provided, single submitter curation, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 2227 0 16 0 Molecular Genetics Diagnostic Laboratory; Detroit Medical Center University Laboratories 1167 lab 8 Aug 13, 2014 no assertion criteria provided clinical testing novel Pathogenic 8 0 0 0 0 Claritas Genomics 1179 lab 99 Erie St, Cambridge, Massachusetts, 02139 United States 130 Feb 22, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 130 0 0 0 0 Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory; Brigham and Women's Hospital 1196 lab 75 Francis Street, Boston, Massachusetts, 02115 United States 6 Jul 20, 2015 no assertion criteria provided clinical testing novel Pathogenic, drug response 6 0 0 0 0 HFI Laboratory at Boston University; Boston University 1207 lab 5 Cummington Mall, Boston, Massachusetts, 02215 United States 4 Mar 15, 2017 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Genetic Diagnostic Laboratory; University of Pennsylvania School of Medicine 1224 lab 415 Anatomy-Chemistry Building, 3620 Hamilton Walk, Philadelphia, Pennsylvania, 19104 United States 68 Apr 11, 2014 no assertion criteria provided clinical testing, research novel Pathogenic, Uncertain significance 38 31 0 0 0 Center for Human Genetics Laboratory; University Hospitals - University Hospitals Laboratory Service Foundation 1236 lab 10524 Euclid Ave, 6th Floor, Cleveland, Ohio, 44106 United States 1 May 10, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics; Cincinnati Children's Hospital Medical Center 1237 lab 3333 Burnet Ave ML 4006, Cincinnati, Ohio, 45229-3039 United States 17787 Jun 29, 2018 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 17733 54 0 0 0 Genetic Services Laboratory; University of Chicago 1238 lab 5841 S. Maryland Ave. Rm G701, MC0077, Chicago, Illinois, 60637-6726 United States 15336 Mar 06, 2020 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor, other 15332 0 4 0 0 Engle Laboratory; Boston Children's Hospital 18646 lab CSL14076, 3 Blackfan Circle, Boston, Massachusetts, 02115 United States 6 May 03, 2018 criteria provided, single submitter research novel and updates Pathogenic 0 6 0 0 0 Cancer Genomic Medicine Translational Research Lab; Cleveland Clinic Genomic Medicine Institute 19864 lab 34 May 27, 2017 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 34 0 0 0 Institute of Human Genetics; University of Goettingen 19886 lab Heinrich-Dueker-Weg 12, Goettingen, 37073 Germany 122 Jun 15, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 120 2 0 0 0 Institute for Human Genetics; University Clinic Freiburg 21170 lab Freiburg Germany 77 May 21, 2019 criteria provided, single submitter case-control, clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 73 2 0 0 0 Molecular Genetics Laboratory; London Health Sciences Center 21463 lab 800 Commissioners Road East, London, Ontario, N6A5W9 Canada 1914 Apr 07, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1914 0 0 0 0 Laboratory for Molecular Medicine; Partners HealthCare Personalized Medicine 21766 lab 65 Landsdowne Street, Cambridge, Massachusetts, 02139-4232 United States 23663 Mar 21, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, drug response, risk factor, other, not provided 23663 0 0 0 0 Molecular Genetics Laboratory; Institute for Ophthalmic Research 22949 lab Elfriede-Aulhorn-Str. 5-7, Tuebingen, Baden-Wurttemberg, 72076 Germany 35 Apr 24, 2019 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 35 0 0 0 ARUP Laboratories, Molecular Genetics and Genomics; ARUP Laboratories 25969 lab 10386 Feb 06, 2020 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 10385 0 1 0 0 GeneDx 26957 lab 207 Perry Parkway, Gaithersburg, Maryland, 20877 United States 121878 Jun 16, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, Benign/Likely benign, risk factor, not provided, conflicting data from submitters 121878 0 0 0 0 Molecular Diagnostics Lab; Nemours Alfred I. duPont Hospital for Children 28338 lab 1600 Rockland Road, RC1 lab 155, Wilmington, Delaware, 19803 United States 167 Jul 14, 2017 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 167 0 0 0 0 Ambry Genetics 61756 lab 70620 May 18, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 70619 1 0 0 0 King Laboratory; University of Washington 63044 lab 115 Mar 06, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Benign 0 115 0 0 0 Laboratory of genome diagnostics; Academic Medical Center, University of Amsterdam 76327 lab Meibergdreef 15, Amsterdam, 1105 AZ Netherlands 1 Oct 08, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Neurogenetics Department; Cyprus Institute of Neurology and Genetics 78596 other 6 Iroon Avenue, Ayios Dhometios, Nicosia, 2371 Cyprus 1 Jun 20, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Medical Genetics - Wuyts Lab; Antwerp University Hospital 79801 lab Prins Boudewijnlaan 43, Edegem, Antwerpen, B-2650 Belgium 1 Aug 10, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Molecular Diagnostics Laboratory; Hospital Sainte-Justine 115612 lab 3175 Cote-Sainte-Catherine, Montreal, Quebec, H3T 1C5 Canada 1 Sep 22, 2014 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Clinical Biochemistry Laboratory; Health Services Laboratory 118451 lab 60 Whitfield St, London, , W1T 4EU United Kingdom 318 Nov 27, 2014 no assertion criteria provided in vitro, in vivo, research novel Pathogenic, Uncertain significance 0 217 0 0 0 Division of Genomic Diagnostics; The Children's Hospital of Philadelphia 165021 lab 1891 Sep 27, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1889 2 0 0 0 Molecular Genetics Laboratory; Children's Mercy Hospital and Clinics 193071 lab 57 May 08, 2015 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 57 0 0 0 0 Gleeson Lab; University of California San Diego - Department of Neuroscience 194241 lab La Jolla, California United States 2 May 23, 2018 criteria provided, single submitter research novel Likely pathogenic 0 2 0 0 0 Institute of Medical Genetics and Genomics; Sir Ganga Ram Hospital 217613 lab New Delhi, 110060 India 88 Sep 21, 2017 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Benign 7 81 0 0 0 Medical Genomics Laboratory; Department of Genetics UAB 221768 lab 720 20th Street South Suite 330, Birmingham, Alabama, 35294-0024 United States 188 Feb 21, 2020 criteria provided, single submitter clinical testing novel Pathogenic 188 0 0 0 0 Laboratory of Gastroenterology and Hepatology; Radboud University Medical Center 225897 lab Geert Grooteplein Zuid 8, Nijmegen, Gelderland, 6525 GA Netherlands 31 Sep 06, 2018 no assertion criteria provided not provided, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, not provided 0 19 0 0 0 Hehr Laboratory; Center for Human Genetics - University of Regensburg 226585 lab Regensburg Germany 22 Jan 30, 2017 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 22 0 0 0 0 Exeter Molecular Genetics Laboratory 229552 lab Barrack Road, Exeter, Devon, EX2 5DW United Kingdom 1 Mar 12, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 PreventionGenetics; PreventionGenetics 239772 lab 3800 S Business Park Ave, Marshfield, Wisconsin, 54449 United States 18417 Mar 06, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 18417 0 0 0 0 Elsea Laboratory; Baylor College of Medicine 242449 lab 17 Feb 19, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 6 11 0 0 0 Institute of Human Genetics; Cologne University 243629 lab Kerpener Str. 34, Cologne, Nordrhein-Westfalen, 50931 Germany 240 Jun 09, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 240 0 0 0 0 Molecular Genetics Laboratory; BC Children's and BC Women's Hospitals 249401 lab 2J40 – 4500 Oak Street , Vancouver, British Columbia, V6H 3N1 Canada 204 Mar 23, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 204 0 0 0 0 MGZ Medical Genetics Center 255845 lab Bayerstr. 3-5, München, Bayern, 80335 Germany 5 Mar 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 5 0 0 0 0 FirmaLab 256489 lab 21053 Devonshire St. Suite 106, Chatsworth, California, 91311 United States 6 Mar 08, 2017 no assertion criteria provided clinical testing novel Pathogenic 6 0 0 0 0 Genome Diagnostics Laboratory; University Medical Center Utrecht 274978 lab Utrecht, Utrecht, 3584 EA Netherlands 1011 Feb 06, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1011 0 0 0 0 Harvard Reproductive Endocrine Science Center; Massachusetts General Hospital 278763 lab Fruit Street, Boston, Massachusetts, 02114 United States 25 Nov 08, 2016 no assertion criteria provided research novel Pathogenic 0 25 0 0 0 Genetics - Viapath; Viapath, Guy's Hospital 280848 lab Great Maze Pond, London, Greater London, SE1 9RT United Kingdom 3 Apr 12, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 3 0 0 0 0 Randwick Genomics Laboratory, Prince of Wales Hospital; New South Wales Health Pathology 281385 lab Barker Street, Randwick, Sydney, New South Wales, 2031 Australia 1 Mar 18, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Neuromuscular Disease Laboratory; Mayo Clinic College of Medicine 289519 clinic 200 First Street SW, Guggenheim Bldg 801, Rochester, Minnesota, 55905 United States 1 Nov 04, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Keegan Laboratory; University of Michigan 299380 lab 3520 MSRB I, SPC 5652, Ann Arbor, Michigan, 48109-5652 United States 1 Mar 23, 2016 criteria provided, single submitter clinical testing, research novel Uncertain significance 1 1 0 0 0 Institute of Medical Molecular Genetics; University of Zurich 300471 lab Wagistrasse 12, CH-8952 Schlieren, Schwerzenbach, Zurich, 8603 Switzerland 3 Aug 23, 2019 no assertion criteria provided clinical testing, in vitro, research novel Pathogenic, Uncertain significance 2 1 0 0 0 Michigan Medical Genetics Laboratories; University of Michigan 308659 lab 1500 W Medical Center Dr, Ann Arbor, Michigan, 48109-5629 United States 321 Apr 21, 2016 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 321 0 0 0 0 Pediatric Molecular Hematology Laboratory; Schneider Children's Medical Center of Israel 319861 lab Petah-Tikva Israel 1 Jun 20, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 ARUP Laboratories, Cytogenetics and Genomic Microarray; ARUP Laboratories 319864 lab 500 Chipeta Way, Salt Lake City, Utah, 84108 United States 1915 Apr 12, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Pathogenic/Likely pathogenic, conflicting data from submitters 1915 0 0 0 0 Medical Genetics Institute; Shaare Zedek Medical Center 319945 clinic Jerusalem Israel 2 Jun 19, 2018 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Centre for Inherited Metabolic Diseases; Karolinska University Hospital 319999 lab CMMS L7:05, Stockholm, Stockholms Lan, 17176 Sweden 1 May 03, 2017 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Bristol Genetics Laboratory - North Bristol NHS Trust; Southmead Hospital - Pathology Sciences 320095 lab Pathology Sciences, Southmead Hospital, Bristol, Bristol, City of, BS10 5NB United Kingdom 12 Jan 19, 2017 criteria provided, single submitter research novel and updates Likely pathogenic 0 12 0 0 0 MVZ Dr. Eberhard & Partner Dortmund 320136 lab Brauhausstr. 4, Dortmund, Nordrhein-Westfalen, 44137 Germany 27 Mar 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 27 0 0 0 0 Molecular Diagnostics Laboratory; Seoul National University Hospital 320228 lab Seoul South Korea 34 Nov 14, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 34 0 0 0 0 Health in Code 320229 lab La Coruna, Galicia, 15006 Spain 1 Nov 27, 2017 no assertion criteria provided in vitro, research novel Pathogenic 0 1 0 0 0 Molecular Vision Laboratory 320256 lab 1920 NE Stucki Ave, St. 150, Hillsboro, Oregon, 97006 United States 2 Sep 11, 2018 no assertion criteria provided clinical testing novel other 2 0 0 0 0 Cardiovascular Genetics Laboratory; PathWest Laboratory Medicine WA 320268 lab Department of Clinical Biochemistry; PathWest Fiona Stanley Hospital; 9 Robin Warren Drive, Murdoch, Western Australia, 6150 Australia 153 May 09, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 153 0 0 0 0 Versiti Diagnostic Laboratories; Versiti, Inc 320366 lab 638 North 18th Street, Milwaukee, Wisconsin, 53233 United States 10 Mar 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely benign, Benign 10 0 0 0 0 MyeliNeuroGene Lab; McGill University Health Center Research Institute 320379 lab 1001 boul Décarie, Site Glen Pavilion E / Block E, CHHD Mail Drop Point #EM03211 (cubicle C), Montreal, Quebec, H4A 3J1 Canada 39 Aug 16, 2019 criteria provided, single submitter in vitro, research novel Pathogenic 0 39 0 0 0 Courtagen Diagnostics Laboratory; Courtagen Life Sciences 320384 lab 12 Gill St., Suite 3700, Woburn, Massachusetts, 01801 United States 42 May 28, 2015 criteria provided, single submitter clinical testing novel and updates Pathogenic 42 0 0 0 0 Institute of Human Genetics; University Hospital Ulm 320388 lab Albert-Einstein-Allee 11, Ulm, Baden-Wurttemberg, 89081 Germany 15 Apr 08, 2020 no assertion criteria provided research novel Pathogenic, Benign 0 15 0 0 0 Division of Human Genetics; Medical University Innsbruck 320418 other Peter-Mayr-Str. 1, Innsbruck, Tirol, 6020 Austria 135 Mar 04, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 119 16 0 0 0 Counsyl 320494 lab 180 Kimball Way, South San Francisco, California, 94080 United States 20976 Aug 05, 2019 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, other 19927 0 1049 0 0 Leiden Muscular Dystrophy pages (CAV3) 500012 LSDB Leiden Netherlands 69 Apr 16, 2012 no assertion provided curation, literature only novel not provided 0 0 3 66 0 DAG1 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500013 LSDB Leiden Netherlands 12 May 13, 2011 no assertion provided curation novel not provided 0 0 0 12 0 DPM3 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500014 LSDB Leiden Netherlands 3 Apr 20, 2012 no assertion provided curation novel not provided 0 0 0 3 0 Leiden Muscular Dystrophy pages (MYL2) 500015 LSDB Leiden Netherlands 22 Mar 28, 2012 no assertion provided curation, literature only novel not provided 0 0 7 15 0 Leiden Muscular Dystrophy pages (MYL3) 500016 LSDB Leiden Netherlands 14 Mar 21, 2012 no assertion provided curation, literature only novel not provided 0 0 2 12 0 MYOZ2 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500017 LSDB Leiden Netherlands 6 Apr 20, 2012 no assertion provided curation novel not provided 0 0 0 6 0 Leiden Muscular Dystrophy pages (MYPN); Leiden University Medical Center 500018 LSDB Leiden Netherlands 48 Apr 27, 2012 no assertion provided curation novel not provided 0 0 0 48 0 Leiden Muscular Dystrophy pages (PDLIM3); Leiden University Medical Center 500019 LSDB Leiden Netherlands 4 Apr 20, 2012 no assertion provided curation novel not provided 0 0 0 4 0 Osteogenesis Imperfecta Variant Database (PPIB); University of Leicester 500020 LSDB Leicester, LE1 7RH United Kingdom 11 Feb 17, 2011 no assertion provided curation novel not provided 0 0 0 11 0 Osteogenesis Imperfecta Variant Database (SERPINF1); University of Leicester 500021 LSDB Leicester, LE1 7RH United Kingdom 3 Mar 02, 2011 no assertion provided curation novel not provided 0 0 0 3 0 Osteogenesis Imperfecta Variant Database (SP7); University of Leicester 500022 LSDB Leicester, LE1 7RH United Kingdom 1 Feb 21, 2011 no assertion provided curation novel not provided 0 0 0 1 0 TNNT1 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500023 LSDB Leiden Netherlands 12 Mar 18, 2012 no assertion provided curation novel not provided 0 0 0 12 0 TNNT3 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500024 LSDB Leiden Netherlands 10 Mar 18, 2012 no assertion provided curation novel not provided 0 0 0 10 0 TPM1 homepage - Leiden Muscular Dystrophy pages; Leiden University Medical Center 500025 LSDB Leiden Netherlands 32 Apr 15, 2012 no assertion provided curation novel not provided 0 0 0 32 0 Integrated Genetics/Laboratory Corporation of America; Laboratory Corporation of America 500026 lab 3400 Computer Drive, Suite 100, Westborough, Massachusetts, 01581 United States 16531 May 22, 2020 criteria provided, single submitter clinical testing, curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, not provided 16381 0 0 858 0 Invitae 500031 lab 1400 16th Street, San Francisco, California, 94103 United States 343177 Feb 06, 2020 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor, other, not provided 343174 0 3 0 0 Mendelics 500035 lab Rua Cubatao, 86, cj 1202, Vila Mariana, Sao Paulo, Sao Paulo, 04013-000 Brazil 9268 May 21, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 9268 0 0 0 0 Sharing Clinical Reports Project 500037 consortium United States 2358 Dec 29, 2015 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, not provided 2358 0 0 0 0 Lineagen, Inc 500040 lab Salt Lake City, Utah, 84109 United States 4443 Nov 14, 2018 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance, Likely benign 4443 0 0 0 0 Columbia University Laboratory of Personalized Genomic Medicine; Columbia University Medical Center 500041 lab New York, New York, 10032 United States 3 Apr 17, 2019 criteria provided, single submitter clinical testing novel Pathogenic 3 0 0 0 0 Sema4; Sema4 500057 lab 1425 Madison Avenue, New York, New York, 10029 United States 12 Nov 28, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 12 0 0 0 0 EGL Genetic Diagnostics; Eurofins Clinical Diagnostics 500060 lab 2460 Mountain Industrial Boulevard, Tucker, Georgia, 30084 United States 45028 Sep 19, 2018 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, other 45028 1 0 0 0 GeneReviews 500062 resource Seattle, Washington United States 6228 Jun 17, 2020 no assertion criteria provided curation, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor, other, association, protective, not provided 0 0 3021 3207 0 Mayo Clinic Genetic Testing Laboratories; Mayo CLinic 500068 lab 3475 Feb 25, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 3170 305 0 0 0 NEI Ophthalmic Genomics Laboratory; National Institutes of Health 500072 lab 10 Center Drive, Room 10N109, Bethesda, Maryland, 20892 United States 95 Mar 16, 2011 no assertion provided literature only novel not provided 0 0 95 0 0 American College of Medical Genetics and Genomics 500073 other 7101 Wisconsin Ave., Suite 1101, Bethesda, Maryland, 20814 United States 27 Jul 30, 2019 practice guideline curation novel and updates Pathogenic, Benign, other 0 0 0 27 0 Tuberous sclerosis database - Tuberous sclerosis 2 (TSC2); University College London 500074 LSDB London United Kingdom 1671 Aug 09, 2013 no assertion provided curation novel and updates not provided 0 0 0 1671 0 Tuberous sclerosis database - Tuberous sclerosis 1 (TSC1); University College London 500075 LSDB London United Kingdom 603 Aug 09, 2013 no assertion provided curation novel and updates not provided 0 0 0 603 0 DLE - Diagnosticos Laboratoriais Especializados 500078 lab Av Nossa Senhora de Copacabana 1018 8º andar, Rio de Janeiro, Rio de Janeiro, 22060-002 Brazil 3 Mar 16, 2017 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Foulkes Cancer Genetics LDI; Lady Davis Institute for Medical Research 500086 lab E425 - 3755 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec, H3T 1E2 Canada 198 Jul 18, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 198 0 0 0 0 CFTR2 500092 LSDB Baltimore, Maryland United States 359 Mar 21, 2019 reviewed by expert panel research novel and updates Pathogenic 0 359 0 0 0 GargLab; Nationwide Children's Hospital 500097 lab 700 Children's Drive, Research Building III, WB4221, Columbus, Ohio, 43205 United States 3 Apr 20, 2020 no assertion criteria provided research novel Pathogenic, association 0 3 0 0 0 dbVar; National Center for Biotechnology Information (NCBI) 500102 resource Bethesda, Maryland United States 1 May 13, 2011 no assertion criteria provided curation novel Pathogenic 0 0 0 1 0 Victorian Clinical Genetics Services; Murdoch Childrens Research Institute 500104 lab Melbourne, 3052 Australia 214 Jun 09, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 214 0 0 0 0 Fulgent Genetics; Fulgent Genetics 500105 lab 4978 Santa Anita Ave. STE 205, Temple City , California, 91780 United States 4916 Mar 09, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 4916 0 0 0 0 Martin Pollak Laboratory; Beth Israel Deaconess Medical Center 500107 lab 330 Brookline Ave, RM #304, Boston, Massachusetts, 02215 United States 234 Aug 28, 2013 no assertion criteria provided literature only novel Uncertain significance 0 0 234 0 0 Laboratory for Genetics of Human Development; Catholic University of Leuven 500109 lab Herestraat 49 - box 602, Leuven, 3000 Belgium 8 Jul 16, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic 0 0 8 0 0 Quest Diagnostics Nichols Institute San Juan Capistrano 500110 lab San Juan Capistrano, California, 92690-6130 United States 11943 Mar 06, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 11943 0 0 0 0 Neurogenetics Research; Murdoch Childrens Research Institute 500113 lab 50 Flemington Road, Melbourne, 3052 Australia 23 Feb 23, 2019 criteria provided, single submitter literature only, research novel and updates Pathogenic 0 18 5 0 0 Systems Biology Division; Zhejiang-California International Nanosystems Institute 500114 lab Zhejiang University, Hangzhou China 2 May 15, 2013 no assertion provided literature only novel not provided 0 0 2 0 0 Shiraz Institute for Cancer Research; Shiraz University of Medical Sciences 500115 lab Zand Blvd, Shiraz Iran 1 Jul 18, 2013 no assertion criteria provided literature only novel Likely pathogenic 0 0 1 0 0 Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 500116 lab P.O. Box 20 (Tukholmankatu 8), Helsinki Finland 840 May 19, 2013 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic 0 0 840 0 0 Medical Biology Lab; Gaziantep University 500117 lab Medical Faculty, Sehitkamil/Gaziantep, 27310 Turkey 20 May 05, 2014 no assertion provided literature only novel not provided 0 0 20 0 0 Laboratoire de Génétique Moléculaire; CHU Pontchaillou 500118 lab 2 rue Henri Le Guilloux, Rennes, 35003 France 5 Jun 24, 2013 no assertion provided literature only novel not provided 0 0 5 0 0 Hubei Clinical and Research Center of Thrombosis and Hemostasis; Union Hospital 500119 lab Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430022 China 24 Sep 12, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, not provided 0 0 24 0 0 Center for Applied Genomics; Children's Hospital of Philadelphia 500120 lab 3615 Civic Center Boulevard, Abramson Research Center, 1014H, Philadelphia, Pennsylvania, 19104 United States 2 Apr 23, 2013 no assertion provided literature only novel not provided 0 0 2 0 0 Lab. of Molecular Biology of Arterial Hypertension; University of Padova 500122 lab Lab.2, Piano Rialzato Policlinico, Padova, 35128 Italy 2 Jun 17, 2013 no assertion provided literature only novel not provided 0 0 2 0 0 Stoller Lab; Children's Hospital of Philadelphia 500123 lab 34th St and Civic Center Blvd, Philadelphia, Pennsylvania, 19104 United States 1 May 10, 2013 no assertion provided literature only novel not provided 0 0 1 0 0 STRNAD; University Hospital of Ulm 500124 lab Universitaetsklinikum Ulm, Zentrum für Innere Medizin, Ulm, 89081 Germany 6 May 14, 2013 no assertion provided literature only novel not provided 0 0 6 0 0 CVG; University of British Columbia 500125 lab 2211 Wesbrook Mall F163, Vancouver, British Columbia, V6T 2B5 Canada 2 Nov 12, 2014 no assertion criteria provided literature only, research novel Pathogenic 0 1 1 0 0 Richard Lifton Laboratory; Yale University 500126 lab 300 Cedar Street TAC S341D , TAC S341D, New Haven, Connecticut, 06520-8005 United States 400 Mar 27, 2015 criteria provided, single submitter literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, not provided 0 2 398 0 0 Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 500127 lab Kiel, 24105 Germany 6 Jul 05, 2013 no assertion provided literature only novel not provided 0 0 6 0 0 Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 500128 lab Guilin China 1 Jul 27, 2013 no assertion criteria provided literature only novel Likely pathogenic 0 0 1 0 0 Endocrine Clinic; Seth G. S. Medical College 500130 lab Acharya Donde Marg, Parel, Mumbai, Maharashtra, 400 012 India 35 Jan 01, 2018 no assertion criteria provided case-control, literature only, research novel and updates Pathogenic, Likely pathogenic, not provided 0 19 1 0 0 Department of Neuroscience 500131 lab Riyadh, 11211 Saudi Arabia 1 Aug 05, 2013 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 UniProtKB/Swiss-Prot 500133 resource Switzerland 921 Mar 20, 2013 no assertion criteria provided literature only novel Likely pathogenic, Uncertain significance, Likely benign, not provided 0 0 921 0 0 Gray Institute for Radiation Oncology & Biology; University of Oxford 500134 lab Old Road Campus Research Building, Roosevelt Drive, Oxford, OX3 7DQ United Kingdom 23 Aug 15, 2013 no assertion criteria provided literature only novel other 0 0 23 0 0 Strand Center for Genomics and Personalized Medicine; Strand Life Sciences Private Limited 500136 lab 16 Nov 05, 2015 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 16 0 0 0 0 Department of Genetics; Osmania University 500138 lab Department of Genetics, University College of Science, Osmania University, Hyderabad, Andhra Pradesh, 500007 India 1 Aug 15, 2013 no assertion criteria provided literature only novel drug response 0 0 1 0 0 ClinVar 500139 resource Bethesda, 20892 United States 1152 May 10, 2018 no assertion criteria provided curation, literature only novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, risk factor, protective, not provided 0 0 1149 3 0 Department of Neurology; The University of Tokyo, Graduate School of Medicine 500143 lab Tokyo Japan 2 Sep 08, 2013 no assertion criteria provided literature only novel Pathogenic 0 0 2 0 0 Institut für Integrative und Experimentelle Genomik 500151 lab Maria-Goeppert-Str. 1, MFC1, 4. OG, Lübeck, 23562 Germany 2 Sep 23, 2013 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Eye Genetics Research Group; Children's Medical Research Institute 500152 lab 214 Hawkesbury Rd, Westmead, New South Wales, 2145 Australia 58 Sep 13, 2017 no assertion criteria provided clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 2 56 0 0 0 RYR1 homepage - Leiden Muscular Dystrophy pages 500155 LSDB Leiden Netherlands 378 Dec 01, 2011 no assertion provided literature only novel not provided 0 0 378 0 0 Alzheimer Center and Department of Neurology 500156 lab De Boelelaan 1118, Room PK-1 Z 041, Amsterdam, 1081 HZ Netherlands 2 Oct 28, 2013 no assertion provided research novel not provided 0 2 0 0 0 Epithelial Biology; Institute of Medical Biology, Singapore 500159 lab Singapore 1100 Jul 31, 2012 no assertion provided literature only novel not provided 0 0 1100 0 0 Science for Life laboratory; Karolinska Institutet 500161 lab Nobels väg 12 A, P.O. Box 281, Stockholm, SE-171 77 Sweden 407 Nov 10, 2011 no assertion criteria provided literature only novel Uncertain significance 0 0 407 0 0 Community Genetics; University of British Columbia 500162 lab IMP, Medical Sciences Building, Victoria, British Columbia, V8W 2Y2 Canada 1 Jun 22, 2011 no assertion provided literature only novel not provided 0 0 1 0 0 Cardiovascular Biomedical Research Unit; Royal Brompton and Harefield NHS Foundation Trust 500163 lab 1523 Sep 22, 2016 criteria provided, single submitter literature only, research novel and updates Likely pathogenic, Uncertain significance, Likely benign, not provided 0 176 1347 0 0 SN ONGC Dept of Genetics and Molecular biology; Vision Research Foundation 500164 lab Sankara Nethralaya, #18, College Road, Chennai, 600 006 India 20 Feb 28, 2013 no assertion criteria provided literature only novel Pathogenic, Uncertain significance, not provided 0 0 20 0 0 SNPedia; River Road Bio 500165 other Rockville, Maryland, 20854 United States 114 Jan 04, 2019 criteria provided, single submitter literature only novel Pathogenic, Likely pathogenic, not provided 0 0 114 0 0 Narod's Lab; University of Toronto 500167 lab 76 Grenville Street, Room E1-10, Toronto, Ontario, M5S 1B2 Canada 6 Nov 01, 2010 no assertion provided literature only novel and updates not provided 0 0 6 0 0 Systems Biology Platform; Zhejiang California International NanoSystems Institute 500169 lab 268 Kai Xuan Road , Hua Jia Chi Campus, Hangzhou, 310029 China 1024 Feb 04, 2009 no assertion criteria provided literature only novel other 0 0 1024 0 0 Brunetti-Pierri's lab; TIGEM (Telethon Institute of Genetics and Medicine) 500173 lab via P. Castellino, 111, Naples, 80131 Italy 1 Nov 04, 2013 no assertion provided literature only novel not provided 0 0 1 0 0 Department of Medicine; c/o University of Cambridge 500174 other Level 5, Addenbrooke's Hospital, Cambridge, CB2 0QQ United Kingdom 1 Sep 10, 2013 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Pediatric Diabetes Laboratory; Charité Campus Berlin-Buch 500178 lab Lindenberger Weg 80, Berlin, 13125 Germany 3 Oct 25, 2013 no assertion provided literature only novel not provided 0 0 3 0 0 Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 500181 lab Paris France 4 Sep 09, 2013 no assertion criteria provided literature only novel Pathogenic 0 0 4 0 0 Cole and Hamvas Lab; Washington University - St. Louis 500183 lab Division of Newborn Medicine, Washington University Medical Center, St. Louis, Missouri, 63110 United States 5 Nov 16, 2013 no assertion provided literature only novel not provided 0 0 5 0 0 Developmental Genetics Unit; King Faisal Specialist Hospital & Research Centre 500184 lab 645 Dec 13, 2019 criteria provided, single submitter clinical testing, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 8 636 1 0 0 Academic Department of Medical Genetics; University of Cambridge 500185 lab Level 6 Addenbrooke's Treatment Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ United Kingdom 50 Apr 23, 2018 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 50 0 0 0 Blueprint Genetics 500188 lab Keilaranta 16 A-B, Espoo, Southern Finland, 02150 Finland 5130 May 15, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 5122 8 0 0 0 International Society for Gastrointestinal Hereditary Tumours 500189 other London United Kingdom 1714 Jun 21, 2019 reviewed by expert panel curation, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 1409 0 305 0 Northern Blood Research Centre; University of Sydney 500191 lab Kolling Building, Level11- Reserve Road, St Leonards, New South Wales, 2065 Australia 3 Jul 10, 2018 criteria provided, single submitter clinical testing, literature only, research novel Pathogenic 1 1 1 0 0 Mitochondrial Research; Murdoch Childrens Research Institute 500193 lab Royal Children's Hospita, 50 Flemington Rd, Parkville, Victoria Australia 2 Dec 09, 2013 no assertion criteria provided literature only novel Uncertain significance 0 0 2 0 0 PXE International 500195 consortium 4301 Connecticut Avenue, Suite 404, Washington , District of Columbia, 20008 United States 370 Aug 20, 2018 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Benign 0 370 0 0 0 Institute of Microbiology; University Hospital and University of Lausanne 500198 other 3 Aug 08, 2014 no assertion criteria provided research novel drug response 0 3 0 0 0 Human Genome Sequencing Center Clinical Lab; Baylor College of Medicine 500199 lab One Baylor Plaza, Room R830, Houston, Texas, 77030 United States 209 Apr 27, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, risk factor 205 4 0 0 0 Institute of Biochemistry and Experimental Oncology 500200 lab U Nemocnice 5, Praha, 128 53 Czech Republic 19 Oct 26, 2010 no assertion provided literature only novel and updates not provided 0 0 19 0 0 Centre of Chronic Immunodeficiency; Freiburg University 500201 lab Breisacher Straße 117, Freiburg, 79106 Germany 3 Aug 06, 2012 no assertion criteria provided literature only novel Pathogenic 0 0 3 0 0 Willoughby Group 500210 lab Centre for Vision and Vascular Science, School of Medicine, Dentistry & Biomedical Sciences, Belfast, BT12 6BA United Kingdom 33 Nov 13, 2012 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Benign 0 0 33 0 0 Center for Pediatric Genomic Medicine; Children's Mercy Hospital and Clinics 500213 lab 2401 Gillham Road, Kansas City, Missouri, 64108 United States 5 Mar 06, 2015 no assertion criteria provided not provided novel drug response 0 0 0 0 0 The Rudbeck Laboratory; Uppsala University 500214 lab Dag Hammarskjölds Väg 20, Uppsala, SE 751 85 Sweden 5 Oct 24, 2014 no assertion criteria provided literature only novel Pathogenic, not provided 0 0 5 0 0 Department of Plant Molecular and Cellular Biology; Adam Mickiewicz University 500215 lab Umultowska 89, Poznan, 61-614 Poland 3 Jun 11, 2010 no assertion provided literature only novel not provided 0 0 3 0 0 DNA Repair Laboratory; Institute of Biomedical Sciences - University of São Paulo 500218 lab Av Prof Lineu Prestes 1374; ICBII, Sao Paulo, Sao Paulo, 05508000 Brazil 2 Feb 18, 2016 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 School of Biology 500219 lab Enghelab Avenue, Tehran Iran 16 Mar 26, 2012 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 0 16 0 0 Human Genetics Research Centre; St George's University of London 500222 lab London United Kingdom 2 May 19, 2017 no assertion criteria provided literature only, research novel Likely pathogenic, Uncertain significance 0 1 1 0 0 Diasio Lab; Mayo Clinic 500223 lab Rochester, Minnesota United States 107 Oct 27, 2009 no assertion provided literature only novel not provided 0 0 107 0 0 Familial Cancer Clinic 500224 lab Via Gattamelata, 64, Padova, 35128 Italy 19 Dec 21, 2010 no assertion criteria provided literature only novel Likely pathogenic 0 0 19 0 0 GenMed Metabolism Lab 500231 lab 111 Michigan Ave NW , DC, Room 5700, Washington, District of Columbia, 20010 United States 317 Feb 14, 2013 no assertion criteria provided literature only novel Pathogenic 0 0 317 0 0 Harris Lab 500237 lab Mayo Mail Code 196, 1460 Mayo Building, Minneapolis, Minnesota, 55455 United States 99 May 01, 2012 no assertion provided literature only novel not provided 0 0 99 0 0 Institute of Human Genetics; Klinikum rechts der Isar 500240 clinic Munich, 81675 Germany 1228 Jan 28, 2020 criteria provided, single submitter clinical testing, in vitro, in vivo, provider interpretation, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 1180 31 0 0 0 Huiwen; Xinhua Hospital 500243 lab Pediatric Endocrinology and Genetic Metabolism, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092 China 15 May 15, 2014 no assertion criteria provided literature only novel Pathogenic 0 0 15 0 0 Institute for Genetics of Heart Diseases; University Hospital Muenster 500245 lab Institut für Genetik von Herzerkrankungen, Albert-Schweitzer-Campus 1 (Gebäude D3), Münster, D-48149 Germany 4 May 15, 2014 no assertion criteria provided literature only novel Likely pathogenic, Uncertain significance 0 0 4 0 0 Academic Unit of Haematology; University of Sheffield 500250 lab School of Medicine and Biomedical Sciences, Beech Hill Road, Sheffield, South Yorkshire, S10 2RX United Kingdom 383 Jul 31, 2012 no assertion provided literature only novel not provided 0 0 383 0 0 Department of Allergy 500254 lab No.1 Shuai Fu Yuan, Dong Cheng District, Beijing, 100730 China 3 Feb 29, 2012 no assertion provided literature only novel not provided 0 0 3 0 0 Laboratorio de Genetica Humana; Universidad de los Andes 500263 lab Bogota Colombia 8 Aug 27, 2014 no assertion criteria provided literature only, research novel Likely pathogenic, Likely benign, Benign, not provided 0 5 3 0 0 Laboratoire de Génétique et de Physiologie Neuroendocrinienne; Faculté des Sciences 500264 lab BP 133, Kénitra, 14000 Morocco 3 Jul 12, 2010 no assertion provided literature only novel not provided 0 0 3 0 0 LISIN; Facultad de Ciencias Exactas, Universidad Nacional de La Plata 500267 other 32 Jul 07, 2015 criteria provided, single submitter research novel Pathogenic, Benign 0 32 0 0 0 Laboratory of Translational Genomics 500269 lab Maryland United States 42 Jan 14, 2011 no assertion provided literature only novel not provided 0 0 42 0 0 Mayo Muscle Lab; Mayo Clinic 500270 lab Guggenheim 8, 200 First Street SW, Rochester, Minnesota United States 3 Jun 11, 2014 no assertion criteria provided research novel and updates Pathogenic 0 3 0 0 0 Miller Lab; National Institutes of Health 500274 lab BG 10 RM 9N311, 10 Center Drive, Bethesda, Maryland, 20814 United States 2 Aug 07, 2014 no assertion provided literature only novel not provided 0 0 2 0 0 Neurology IV Unit; Fondazione Istituto Neurologico "Carlo Besta" 500282 other 1 Aug 08, 2014 no assertion criteria provided research novel drug response 0 1 0 0 0 Inserm U 954 Nutrition-Génétique-Exposition aux risques environnementaux 500285 lab BP 184, Vandoeuvre les Nancy, 54511 France 71 Aug 14, 2015 no assertion criteria provided literature only, not provided novel Likely pathogenic, Likely benign, not provided 0 0 45 0 0 Nyegaard lab; Aarhus University 500287 other Department of Biomedicine, Bartholins Allé 6, Aahrus, 8000 Denmark 4 Aug 08, 2014 no assertion criteria provided research novel Pathogenic, Benign 0 4 0 0 0 Genetics Laboratories; Oxford Radcliffe Hospitals NHS Trust 500289 lab Churchill Hospital, Old Road, Oxford, Hereford and Worcester, OX3 7LJ United Kingdom 26 Jun 10, 2011 no assertion criteria provided not provided novel Uncertain significance, Likely benign, Benign 0 0 0 0 0 Psychiatry Genetics 500294 lab VAMC/116A2, 950 Campbell Ave, West Haven, Connecticut, 06516 United States 236 Apr 18, 2013 no assertion provided literature only novel not provided 0 0 236 0 0 Pharmacogenomics Knowledge Base; Stanford University 500295 resource Stanford, California, 94305-4125 United States 744 Jun 14, 2019 reviewed by expert panel curation novel and updates drug response 0 0 0 744 0 Lab of Dermatology; Peking University First Hospital 500296 lab No.8 Xishiku Street, Xicheng District, Beijing, 100034 China 3 Jan 12, 2012 no assertion criteria provided literature only novel Pathogenic 0 0 3 0 0 Reproductive Endocrinology and immunology 500298 lab Taipei Taiwan 2 Sep 26, 2011 no assertion provided literature only novel not provided 0 0 2 0 0 Department of Molecular Biophysics; University of Lodz 500300 lab Banacha 12/16 Street, Room 42A, Lodz, Lodz, 90-237 Poland 13 Nov 24, 2014 no assertion provided literature only novel not provided 0 0 13 0 0 Rajkovic Lab; University of Pittsburgh 500303 lab 204 Craft Avenue, Pittsburgh, Pennsylvania, 15213 United States 31 Oct 30, 2014 no assertion criteria provided literature only novel Pathogenic, not provided 0 0 31 0 0 Retina International 500304 LSDB Department of Ophthalmology, Universitaetsklinikum Giessen and Marburg GmbH, Giessen, 35385 Germany 1549 Dec 20, 2012 no assertion provided literature only novel not provided 0 0 1549 0 0 University of Sydney Medical Foundation 500310 lab Building (K25), Room 135, 92 - 94 Parramatta Road, Camperdown , NSW 2006 Australia 42 May 02, 2012 no assertion provided literature only novel not provided 0 0 42 0 0 Functional Genomics; Thrombosis Research Institute, India 500311 lab No. 258/A, Bommasandra Industrial Area, Bangalore, 560099 India 9 Oct 17, 2012 no assertion provided literature only novel and updates not provided 0 0 9 0 0 Unité médicale des maladies autoinflammatoires; CHRU Montpellier 500314 lab 371, av du doyen giraud, Montpellier, 34295 France 638 Dec 12, 2011 no assertion provided literature only, not provided novel not provided 0 0 637 0 0 Neurodegenerative Brain Diseases Group 500316 lab CDE, Building V, Room 1.13, , Universiteitsplein 1, Antwerpen, B-2610 Belgium 334 Feb 13, 2013 no assertion provided literature only, not provided novel not provided 0 0 332 0 0 Casey Eye Institute Glaucoma Genetics Lab 500319 lab 3375 S.W. Terwilliger Blvd., Portland, Oregon, 97239 United States 52 Jun 15, 2011 no assertion provided literature only novel not provided 0 0 52 0 0 LDLR-LOVD, British Heart Foundation, Department of Cardiovascular Genetics; University College London 500536 LSDB Institute of Cardiovascular Science, The Rayne Building, 5 University Street,, London, WC1E 6JF United Kingdom 1686 Apr 20, 2016 criteria provided, single submitter literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 18 1677 0 0 Breast Cancer Information Core (BIC); National Institutes of Health 504196 LSDB Bethesda, Maryland United States 1754 Mar 28, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance, Benign, not provided 1754 0 0 0 0 Breast Cancer Information Core (BIC) 504197 LSDB Bethesda, Maryland United States 1969 Mar 28, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance, Benign, not provided 1969 0 0 0 0 RettBASE 504290 LSDB Locked Bag 4001, Westmead, New South Wales, NSW 2145 Australia 1097 Aug 08, 2016 no assertion criteria provided curation, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, not provided 0 14 124 959 0 ZMPSTE24 homepage - Leiden Muscular Dystrophy pages 504631 LSDB Leiden Netherlands 53 Feb 22, 2013 no assertion provided literature only novel not provided 0 0 53 0 0 TNNI2 homepage - Leiden Muscular Dystrophy pages 504732 LSDB Leiden Netherlands 8 Apr 05, 2012 no assertion provided literature only novel not provided 0 0 8 0 0 TPM2 homepage - Leiden Muscular Dystrophy pages 504734 LSDB Leiden Netherlands 23 Apr 02, 2012 no assertion provided literature only novel not provided 0 0 23 0 0 TPM3 homepage - Leiden Muscular Dystrophy pages 504741 LSDB Leiden Netherlands 17 Mar 21, 2012 no assertion provided literature only novel not provided 0 0 17 0 0 ANO5 @LOVD 504785 LSDB Leiden Netherlands 32 Mar 30, 2011 no assertion provided literature only novel not provided 0 0 32 0 0 Molecular Genetics Unit; Terrassa Hospital 504791 lab Torrebonica, s/nº, 08227, Terrassa, Barcelona Spain 1 Dec 20, 2013 no assertion provided literature only novel and updates not provided 0 0 1 0 0 Genetics Research Lab; Taif University 504792 lab Children Genetic Disorders Group, Al-Haweyah, Taif, 21974 Saudi Arabia 4 May 25, 2015 no assertion criteria provided literature only, not provided novel Pathogenic 0 0 1 0 0 Dept of Medical Genetics; Shandong University 504793 lab Shandong China 1 Dec 18, 2013 no assertion criteria provided literature only novel Pathogenic 0 0 1 0 0 State Key Laboratory of Medical Genetics and School of Life Sciences; Central South University 504794 lab Xiangya Road, Changsha, 410078 China 14 Jul 11, 2017 criteria provided, single submitter clinical testing, reference population novel and updates Pathogenic, Uncertain significance, Likely benign 1 0 0 0 0 McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University 504795 other 3 Dec 30, 2013 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance 3 0 0 0 0 Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo 504796 lab Santiago Chile 23 Feb 25, 2014 no assertion criteria provided research novel Pathogenic 0 23 0 0 0 Central Laboratory; The First Affiliated Hospital, Jinan University 504798 lab No.613, Huangpu Dadao Xi, Tianhe District, Guangzhou City, 510632 China 1 Jan 07, 2014 no assertion provided literature only novel not provided 0 0 1 0 0 Scientific Bio-Minds 504799 lab #165, 2nd Main, 4th Cross, Talakavery Layout, Near Vishwa Amrutha Apartment, Bangalore, 560092 India 1 Jul 08, 2010 no assertion provided literature only novel not provided 0 0 1 0 0 Fujian Institute of Hematology; Fujian Medical University 504800 other 29 Xinquan Road, Fuzhou , 350001 China 6 May 10, 2017 no assertion criteria provided case-control, literature only novel Pathogenic 0 0 1 0 0 Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 504802 lab Baltimore, Maryland, 21287 United States 9 Jan 25, 2014 no assertion provided literature only novel not provided 0 0 9 0 0 Klinische Chemie und Biochemie 504803 lab Steinwiesstrasse 75, Zurich, CH-8032 Switzerland 3 Nov 01, 2010 no assertion provided literature only novel not provided 0 0 3 0 0 Pharmacogenetics and Inflammatory Diseases Research Group; University of Otago 504804 lab 364 Leith St, North Dunedin, 9016 New Zealand 1 Jan 14, 2014 no assertion provided literature only novel and updates not provided 0 0 1 0 0 George Lab; Vanderbilt University 504805 lab 529 Light Hall, 2215 Garland Avenue, Nashville, Tennessee, 37232-0275 United States 5 Jan 28, 2014 no assertion criteria provided literature only novel Likely pathogenic 0 0 5 0 0 Neurogenetic Laboratory; Oslo University Hospital 504806 lab P.P Box 5049 Nydalen, Oslo, 0424 Norway 6 Jan 28, 2014 no assertion criteria provided research novel and updates Uncertain significance 0 6 0 0 0 UMR_S938_Pr. Le Bouc; INSERM 504807 lab Faculté de Médecine Pierre et Marie Curie, Site Saint-Antoine, Paris, 75571 France 10 Oct 13, 2014 no assertion provided literature only novel not provided 0 0 10 0 0 Institute of Otorhinolaryngology, the First affiliated hospital; Sun Yat-sen University 504811 lab No. 58, Zhongshan er Road, Guangzhou, 510080 China 2 Apr 10, 2014 no assertion criteria provided literature only novel Pathogenic 0 0 2 0 0 Molecular Psychiatry Laboratory; RIKEN 504814 lab 2-1 Hirosawa, Wako-city, Saitama, 351-0198 Japan 35 Oct 19, 2014 no assertion provided literature only novel not provided 0 0 35 0 0 DeBelle Laboratory for Biochemical Genetics; MUHC/MCH RESEARCH INSTITUTE 504816 lab 2300 Tupper St., A-Wing, 7th Floor, Montreal, Quebec, H3H 1P3 Canada 544 Mar 30, 2012 no assertion provided literature only novel not provided 0 0 544 0 0 Human Genetics Laboratory; Castilla-La Mancha University 504817 lab Albacete, 02006 Spain 9 Mar 02, 2015 no assertion criteria provided literature only, not provided novel Pathogenic 0 0 3 0 0 Medical Genetics Unit; Ain Shams University Pediatrics Hospital 504820 lab 106 Hasan Elmamoon, 8th floor, 15, Cairo Egypt 26 Feb 25, 2014 no assertion provided literature only novel not provided 0 0 26 0 0 University of Washington School of Medicine 504823 lab Seattle, Washington, 98195-7720 United States 1 May 02, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Human Evolutionary Genetics 504825 lab 25, rue du Docteur Roux, Paris, 75724 France 541 Apr 16, 2012 no assertion provided literature only novel not provided 0 0 541 0 0 Department of Psychiatry; Nagoya University 504826 lab Nagoya, Aichi Japan 266 Apr 20, 2018 criteria provided, single submitter literature only, research novel Pathogenic, Likely pathogenic, not provided 0 261 5 0 0 Centre for molecular medicine; Karolinska Institutet 504827 lab CMM, Karolinska Universitetssjuhuset, Stockholm, 171 76 Sweden 28 May 22, 2014 no assertion provided literature only novel not provided 0 0 28 0 0 Institute of Molecular Pathology and Immunology of the University of Porto; University of Porto 504828 lab Rua Dr. Roberto Frias, 4200-465, Porto Portugal 22 Mar 24, 2014 no assertion provided literature only novel not provided 0 0 22 0 0 Genetic Testing Lab; University of Kentucky College of Medicine 504830 other 1 Mar 31, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Ahituv Lab; University of California San Francisco 504831 other 1 Apr 01, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Genetics; Bhagwan Mahavir Medical Research Centre 504832 lab 10-1-1, Mahavir Marg, AC Guards, Hyderabad, 5000004 India 6 Apr 10, 2014 no assertion criteria provided literature only novel drug response 0 0 6 0 0 Jonathan Rios; Texas Scottish Rite Hospital for Children 504833 lab 2222 Welborn Street, Dallas, Texas, 75219 United States 1 Mar 31, 2014 no assertion provided literature only novel not provided 0 0 1 0 0 Centre for Genetic Disorders; Banaras Hindu University 504834 other Varanasi, 221005 India 15 Mar 14, 2019 no assertion criteria provided literature only, not provided, research novel and updates Pathogenic, not provided 0 10 1 0 0 Centre de recherche Saint Antoine; Institut national de la santé et de la recherche médicale 504835 lab Faculté de Médecine Pierre et Marie Curie, Site Saint-Antoine, 27 rue Chaligny, Paris, 75571 France 17 Aug 29, 2016 no assertion criteria provided literature only, not provided, research novel Pathogenic, not provided 0 6 1 0 0 Clinic of Pediatric and Adolescent Medicine 504838 lab Eythstrasse 24, Ulm, D-89075 Germany 1 Nov 22, 2010 no assertion criteria provided literature only novel Pathogenic 0 0 1 0 0 Research Lab; National Institute of Public Health 504839 lab 34 Jun 18, 2014 no assertion criteria provided research novel Uncertain significance, association 0 34 0 0 0 Division of Molecular Genetics and Division of Molecular Medicine; Faculty of Medicine Siriraj Hospital, Mahidol University 504840 lab 2 Wanglang, Bangkok, 10700 Thailand 26 Apr 16, 2014 no assertion criteria provided case-control novel association 0 0 0 0 0 Faculty of Health Sciences-Genetics Diagnosis Lab; Islamic University of Gaza 504844 other Gaza Palestinian Territory 1 Apr 18, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Genetics; Robert DEBRE University Hospital 504856 lab 15 May 02, 2014 no assertion criteria provided clinical testing novel Pathogenic 15 0 0 0 0 Urology laboratory, deVerdier; Karolinska Institutet 504858 other Solna, 171 77 Sweden 1 May 03, 2014 no assertion criteria provided case-control novel association 0 0 0 0 0 Alzheimer's disease and other cognitive disorders unit; Hospital Clínic de Barcelona_IDIBAPS 504859 other 1 Feb 24, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 UF de Génétique Moléculaire; Hôpital Lariboisière 504860 other 4 May 08, 2014 criteria provided, single submitter research novel and updates Pathogenic 0 4 0 0 0 Department of Prosthodontics; Peking University School and Hospital of Stomatology 504861 clinic 22 Zhongguancun South Avenue, Haidian District, Beijing, Beijing, 100081 China 9 Jun 06, 2018 no assertion criteria provided clinical testing, research novel Pathogenic, Uncertain significance 5 4 0 0 0 Wellcome Centre for Mitochondrial Research; Newcastle University 504862 lab Newcastle upon Tyne, Tyne and Wear, NE2 4HH United Kingdom 102 Dec 09, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 102 0 0 0 0 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA); c/o QIMR Berghofer Medical Research Institute 504863 consortium 7456 Aug 19, 2019 reviewed by expert panel curation novel and updates Pathogenic, Uncertain significance, Likely benign, Benign, not provided 0 0 0 7456 0 Genomic Research Center; Shahid Beheshti University of Medical Sciences 504864 lab Parvaneh St., Yaman Ave., Velenjak, Tehran, 1985717413 Iran 2484 May 03, 2020 criteria provided, single submitter clinical testing, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, not provided 2402 25 57 0 0 INSERM U1051; Institut des Neurosciences de Montpellier 504868 lab BP74103, Montpellier, 34091 France 1 May 23, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Shenzhen Institute of Pediatrics; Shenzhen Children’s Hospital 504869 other 91 Jul 26, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Affects 91 0 0 0 0 Laboratory of Genomics; Instituto Nacional de Cardiología Ignacio Chávez 504873 lab Juan Badiano #1, Col. Sección XVI, Del., Mexico City, Distrito Federal, 14080 Mexico 13 May 14, 2014 no assertion criteria provided literature only novel Uncertain significance 0 0 13 0 0 Institute of Human Genetics; RWTH University Hospital Aachen 504874 lab Pauwelsstrasse 30, Aachen, 52074 Germany 1 Apr 25, 2014 no assertion provided literature only novel not provided 0 0 1 0 0 Molecular Biology of Hearing and Deafness Laboratory; Ear Institute, Shanghai Jiaotong University School of Medicine 504881 lab Shanghai, 200152 China 2 Sep 07, 2017 no assertion criteria provided clinical testing, literature only, research novel Pathogenic, not provided 1 1 1 0 0 Molecular Genetics Laboratory; Baylor College of Medicine 504888 lab One Baylor Plaza, NA102, Houston, Texas, 77030 United States 15 Jun 05, 2014 criteria provided, single submitter literature only novel and updates Likely pathogenic, Uncertain significance 0 0 15 0 0 Illumina Clinical Services Laboratory; Illumina 504895 lab 5200 Illumina Way, San Diego, California, 92122 United States 220144 Apr 01, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 220144 0 0 0 0 Inova Translational Medicine Institute 504914 lab Falls Church, Virginia United States 2701 Nov 01, 2018 criteria provided, single submitter case-control, reference population, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, not provided 0 12 0 0 0 Demyelinating Disease Laboratories; VA medical center and University of Tennessee 504916 lab 1030 Jefferson Ave., Research Serv. BC144, Memphis, Tennessee, 38104 United States 26 Jun 09, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 0 26 0 0 Medical Genetics Laboratories; Baylor College of Medicine 504935 other 7 May 15, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic 7 0 0 0 0 Rademakers Lab; Mayo Clinic 504936 other 1 Nov 28, 2014 no assertion criteria provided research novel and updates Likely pathogenic 0 1 0 0 0 Reparto di Fisiopatologia delle Malattie Genetiche; Istituto Superiore di Sanità 504988 lab Viale Regina Elena, 299, Rome, 00161 Italy 22 Mar 12, 2015 no assertion criteria provided literature only, not provided novel Pathogenic 0 0 8 0 0 Centre for Reproductive Medicine and Andrology; University of Münster 505008 lab Domagkstraße 11, Münster, Nordrhein-Westfalen, 48129 Germany 1 Jun 11, 2014 no assertion criteria provided clinical testing novel association 1 0 0 0 0 Medical Molecular Genetics; University of Birmingham 505068 other 5 Jul 01, 2014 no assertion criteria provided clinical testing novel Pathogenic 5 0 0 0 0 Section on Translational Neuroscience; Molecular Medicine Program; NICHD; National Institutes of Health 505099 other Porter Neuroscience Research Ctr II; 35A Convent Drive, Bethesda, Maryland, 20892 United States 1 Jul 01, 2014 no assertion criteria provided clinical testing novel Likely benign 1 0 0 0 0 Molecular Genetics and Enzymology; National Research Centre 505100 lab El-Behooth St., Dokki, Giza Egypt 8 Jul 08, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 8 0 0 The Institute of Human Genetics; Galilee Medical Center 505114 lab Nahariya, 22100 Israel 1 Jul 03, 2014 no assertion provided literature only novel not provided 0 0 1 0 0 Institute of Human Genetics; Friedrich-Alexander-Universität Erlangen-Nürnberg 505150 lab Schwabachanlage 10, Erlangen, Bayern, 91054 Germany 508 Jul 07, 2019 criteria provided, single submitter case-control, clinical testing, in vitro, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 42 1 335 0 0 Center for Genetic Medicine Research; Children's National Medical Center 505157 lab 111 Michigan Ave NW, Washington, District of Columbia, 20010 United States 74 Jan 25, 2016 criteria provided, single submitter research novel and updates Likely pathogenic, Uncertain significance 0 74 0 0 0 Faculty of Pharmacy, Ain Shams University; Ain Shams University 505170 other Cairo Egypt 6 Oct 28, 2014 no assertion criteria provided clinical testing novel Pathogenic 6 0 0 0 0 Lee Lab(KAT6B); Baylor College of Medicine 505189 lab One Baylor Plaza, Room R830, Houston, Texas, 77030 United States 19 Feb 02, 2012 no assertion provided literature only novel not provided 0 0 19 0 0 Leiden Muscular Dystrophy pages (B3GALNT2) 505195 LSDB Leiden Netherlands 9 Apr 18, 2013 no assertion provided literature only novel not provided 0 0 9 0 0 Molecular Genetics and RNA Biology; University of Milan 505196 other 4 Jul 21, 2014 criteria provided, single submitter research novel and updates Pathogenic 0 4 0 0 0 Evolutionary and Medical Genetics Laboratory; Center for Cellular and Molecular Biology 505197 other 1 Jul 21, 2014 no assertion criteria provided case-control novel Likely pathogenic 0 0 0 0 0 Department of Zoology; Govt. MVM College 505198 lab Near Old Vidhansabha, Bhopal, Madhya Pradesh India 58 Aug 13, 2014 no assertion criteria provided literature only novel Likely pathogenic 0 0 58 0 0 Laboratory of Cell Biology; Institute of Biomedical Sciences Abel Salazar University of Porto 505199 lab Rua Jorge Viterbo Ferreira, 228, Porto, 4050-313 Portugal 18 Jun 13, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 11 7 0 0 0 Instituto de Investigación Sanitaria; Pfizer-University of Granada-Junta de Andalucia Centre for Genomics and Oncological Research 505200 lab Avenida de la Ilustracion, Granada, 18007 Spain 12 Aug 03, 2017 criteria provided, single submitter in vitro, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 12 0 0 0 Department of Ophthalmology and Visual Sciences; Kyoto University 505202 lab 54, shogoin kawaharacho, Sakyoku, Kyoto, Kyoto Japan 192 Jan 06, 2015 no assertion criteria provided literature only, not provided novel Pathogenic, Likely pathogenic, Likely benign, not provided 0 0 171 0 0 Neurogenetics Laboratory; Royal Perth Hospital 505205 other 15 Feb 25, 2014 no assertion criteria provided clinical testing novel Pathogenic 15 0 0 0 0 Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias; Institute of Hematology and Blood Transfusion 505207 lab U Nemocnice 2094/1, Prague, 128 20 Czech Republic 3 Aug 07, 2014 no assertion provided literature only novel not provided 0 0 3 0 0 Pathway Genomics; Pathway Genomics 505209 lab 4755 Nexus Center Drive, San Diego, California, 92121 United States 238 May 28, 2015 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 224 0 14 0 0 Laboratório de Genética Molecular; University of Campinas - Unicamp 505210 lab R. Tessália Vieira de Camargo, 126, Cidade Universitária "Zeferino Vaz", Campinas, 13083-887 Brazil 2 Jul 25, 2014 no assertion provided literature only novel not provided 0 0 2 0 0 Genologica Medica; Genologica Medica 505214 lab Paseo de la Farola 18, 29016, Malaga. Spain, Malaga, 29016 Spain 64 Mar 15, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 64 0 0 0 0 Northcott Neuroscience Laboratory; ANZAC Research Institute 505217 lab Concord Repatriation General Hospital, Gate 3 Hospital Road, Concord, New South Wales, 2139 Australia 37 Sep 02, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Likely benign, Benign 0 0 37 0 0 Samuels research lab; Centre de Recherche du CHU Ste-Justine 505218 other 7 Oct 10, 2014 no assertion criteria provided research novel Pathogenic 0 7 0 0 0 Clinical and Translational Genomics Laboratory; Washington University in St. Louis 505219 lab 12 Jan 07, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 12 0 0 0 0 Department of Breast and Endocrine Surgery; Kumamoto University 505220 other 7 Aug 28, 2014 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 7 0 0 0 Laboratory of Drosophila Research; The Chinese University of Hong Kong 505221 lab Shatin Hong Kong 2 Aug 03, 2016 criteria provided, single submitter research novel and updates Pathogenic 0 2 0 0 0 TilsonLab; Columbia University 505222 other S&R10; St Luke's Hospital, New York, New York United States 3 Oct 06, 2014 no assertion criteria provided clinical testing, research novel and updates Pathogenic, Likely pathogenic 1 2 0 0 0 Department of Clinical Science; University of Bergen 505223 other 1 Sep 11, 2014 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Whole genome laboratory; Baylor College of Medicine 505230 lab One Baylor Plaza, NA102, Houston, Texas, 77030 United States 14 Sep 23, 2014 no assertion criteria provided clinical testing novel Pathogenic 14 0 0 0 0 UCLA Clinical Genomics Center; UCLA 505231 lab Los Angeles United States 214 Aug 23, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic 214 0 0 0 0 Congenital Heart Disease Genetic Program Lab; American University of Beirut 505233 lab DTS4-16, American University of Beirut, Beirut, 11-0236 Lebanon 6 Jan 31, 2020 criteria provided, single submitter research novel Pathogenic, Uncertain significance, Likely benign 0 6 0 0 0 Laboratoire de Biologie Moléculaire; Centre Hospitalo-Universitaire 505234 other 1 Jul 01, 2014 no assertion criteria provided case-control novel Likely pathogenic 0 0 0 0 0 Radiation Cancer Biology Lab; UNIVERSITY OF RAJASTHAN JAIPUR 505235 lab Lab #49, Jaipur, Rajasthan, 302004 India 2 Sep 26, 2014 no assertion provided literature only novel not provided 0 0 2 0 0 ISCA site 1 505237 lab Bethesda, Maryland United States 7274 Feb 04, 2019 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, Pathogenic/Likely pathogenic, conflicting data from submitters 7274 0 0 0 0 ISCA site 17 505238 lab Bethesda, Maryland United States 359 Feb 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Uncertain significance, Benign 359 0 0 0 0 ISCA site 4 505240 lab Bethesda, Maryland United States 2979 Feb 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, Pathogenic/Likely pathogenic, Benign/Likely benign, conflicting data from submitters 2979 0 0 0 0 ISCA site 15 505241 lab Bethesda, Maryland United States 234 Feb 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign 234 0 0 0 0 ISCA site 6 505242 lab Bethesda, Maryland United States 2555 Feb 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, Pathogenic/Likely pathogenic, Benign/Likely benign, conflicting data from submitters 2555 0 0 0 0 ISCA site 14 505243 lab Bethesda, Maryland United States 183 Feb 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign, Pathogenic/Likely pathogenic 183 0 0 0 0 Chehab Lab; University of California, San Francisco 505247 lab 1 Jul 27, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Laboratório de Genética Humana e Médica; Universidade Federal do Pará 505248 lab Rua Augusto Corrêa, 01 Bairro Guamá, Belem, 66075110 Brazil 2 Oct 06, 2014 no assertion criteria provided literature only novel Pathogenic, not provided 0 0 2 0 0 Simons Lab; The University of Queensland 505249 lab The University of Queensland, Brisbane, 4072 United States 6 Apr 25, 2020 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic, Likely pathogenic 1 5 0 0 0 Institute of Human Genetics; University Medical Center Hamburg-Eppendorf 505251 lab Hamburg Germany 41 Jan 23, 2019 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic, Likely pathogenic 34 7 0 0 0 Department of Mental Retardation and Birth Defect Research; National Center of Neurology and Psychiatry 505252 lab 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502 Japan 12 Oct 09, 2014 no assertion criteria provided literature only novel Likely pathogenic, not provided 0 0 12 0 0 Institute of Molecular and Cell Biology; University of Tartu 505255 other Tartu Estonia 761 Oct 23, 2014 no assertion provided case-control novel not provided 0 0 0 0 0 Department of Neurology; Children's Hospital of Fudan University 505256 lab 1 Jul 31, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic 1 0 0 0 0 Devine Lab; University of Maryland School of Medicine 505257 lab 801 W. Baltimore Street, Rm 615 BioPark II, Baltimore, Maryland, 21201 United States 3 Dec 17, 2014 no assertion provided literature only, not provided novel not provided 0 0 2 0 0 Department of Medical Genetics; Oslo University Hospital 505260 lab Oslo, 0450 Norway 224 Oct 18, 2017 criteria provided, single submitter clinical testing, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, not provided 203 13 8 0 0 James Howe Lab; University of Iowa Hospital and Clinics 505262 other 20 Nov 02, 2014 no assertion criteria provided literature only, research novel Likely pathogenic, not provided 0 3 17 0 0 U955 Equipe 11; INSERM 505263 other 3 Oct 29, 2014 no assertion criteria provided clinical testing, in vitro novel Pathogenic, Likely pathogenic 1 0 0 0 0 EVA; EMBL-EBI 505264 other 11 Oct 04, 2016 no assertion criteria provided research novel Pathogenic 0 11 0 0 0 Genetics of Learning Disability Service; Hunter Genetics 505265 clinic Cnr Turton & Tinonee Rds, WARATAH, New South Wales, 2298 Australia 39 Oct 11, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 37 2 0 0 0 Department of Pharmacy and Biotechnology; University of Bologna 505267 other Via Irnerio, n 48, Bologna, 40126 Italy 12 Jul 16, 2014 no assertion criteria provided case-control novel Uncertain significance 0 0 0 0 0 Klein lab; Ludwig-Maximilians-University 505271 lab Lindwurmstrasse 4, Munich, 80337 Germany 21 Feb 19, 2019 criteria provided, single submitter in vitro, research novel and updates Pathogenic 0 11 0 0 0 National Center for Biotechnology Information 505272 resource 8600 Rockville Pike, Bethesda, Maryland United States 4 Aug 25, 2016 no assertion criteria provided literature only novel Pathogenic 0 0 4 0 0 Shaikh laboratory; University of Colorado 505273 lab 22 Mar 09, 2017 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 22 0 0 0 McDonald Lab; Albert Einstein College of Medicine 505275 lab 1 Nov 15, 2014 no assertion criteria provided research novel and updates Pathogenic 0 1 0 0 0 idemuth; Charité - Universiätsmedizin Berlin 505278 lab Augustenburger Platz 1, Berlin, Berlin, 13353 Germany 2 Nov 20, 2014 no assertion provided literature only novel not provided 0 0 2 0 0 Medical Genetics; Dicle University 505280 lab Diyarbakir Turkey 4 Jun 08, 2015 no assertion provided literature only, not provided novel not provided 0 0 3 0 0 ISCA site 2 505282 lab United States 248 Jun 21, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance, Benign, conflicting data from submitters 248 0 0 0 0 ISCA site 3 505283 lab United States 29 Feb 23, 2017 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 29 0 0 0 0 ISCA site 7 505284 lab Bethesda, Maryland United States 326 Dec 04, 2017 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance, Likely benign, Benign 326 0 0 0 0 ISCA site 8 505285 lab Bethesda, Maryland United States 535 Feb 04, 2019 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign, conflicting data from submitters 535 0 0 0 0 ISCA site 10 505286 lab Bethesda, Maryland United States 17 Feb 04, 2019 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance 17 0 0 0 0 ISCA site 11 505287 lab United States 17 Jun 21, 2014 no assertion criteria provided clinical testing novel and updates Pathogenic, Benign 17 0 0 0 0 ISCA site 18 505288 lab United States 1 Jun 21, 2014 no assertion criteria provided clinical testing novel and updates Likely benign 1 0 0 0 0 Centre de Biotechnologie de Sfax; Université de Sfax 505289 other 5 Oct 28, 2015 no assertion criteria provided research novel and updates Pathogenic 0 5 0 0 0 Colsan; Colsan 505290 lab Av Jandira, 1260, São Paulo, Sao Paulo, 04080-006 Brazil 4 Sep 06, 2017 no assertion provided reference population, research novel not provided 0 2 0 0 0 Evolutionary and Medical Genetics Lab; Centre for Cellular and Molecular Biology 505291 lab E512, Uppal Road, Hyderabad, 500007 India 46 Dec 16, 2014 no assertion criteria provided literature only, not provided novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 0 41 0 0 FORGE Canada; Children's Hospital of Eastern Ontario 505292 other 2 Aug 13, 2014 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 University of British Columbia; University of British Columbia 505293 other 4 Jul 23, 2015 no assertion criteria provided research novel and updates Likely pathogenic, Benign 0 4 0 0 0 CSER _CC_NCGL; University of Washington 505295 lab Seattle United States 818 Sep 30, 2018 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 818 0 0 0 Department of Human Genetics; McGill University 505296 lab 1 Nov 21, 2014 no assertion criteria provided research novel and updates Pathogenic 0 1 0 0 0 Forschungslabor Klinik Innere Medizin A; University Medicine Greifswald 505298 lab Felix-Hoppe-Seyler-Forschungszentrum, Forschungslabor Klinik Innere Medizin A, Greifswald, D17475 Germany 7 Dec 10, 2014 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 0 7 0 0 Unidad de Estudios Geneticos y Forenses; Instituto Venezolano de Investigaciones Cientificas 505299 other 6 Oct 23, 2014 no assertion criteria provided research novel Pathogenic 0 6 0 0 0 Department of Immunology, School of Medicine; Complutense University 505300 other 2 Dec 18, 2014 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Molecular Endocrinology; National Research Institute for Child Health and Development 505301 lab 2-10-1, Okura, Setagaya, Tokyo, Tokyo, 157-8535 Japan 6 Oct 23, 2017 no assertion criteria provided clinical testing, research novel Pathogenic 5 1 0 0 0 Molecular Neurogenomics lab; VIB Department of Molecular Genetics; University of Antwerp 505302 other 2 Nov 18, 2014 criteria provided, single submitter research novel and updates Pathogenic 0 2 0 0 0 Bonnen Lab; Baylor College of Medicine 505303 lab Houston, Texas United States 6 Jan 21, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 6 0 0 0 Center for Medical Genetics Ghent; Ghent University, Ghent University Hospital 505304 other 764 Jun 11, 2018 criteria provided, single submitter case-control, clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 755 6 0 0 0 CHU Sainte-Justine Research Center; Université de Montréal 505306 lab Montreal, Quebec Canada 100 Aug 06, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 12 88 0 0 0 Human Genetics; Philipps Universitaet Marburg 505307 lab 3 Oct 16, 2014 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Immunobiology Lab; University of Kashmir 505308 lab Ground Floor, Science Block, Srinagar, Jammu and Kashmir, 190006 India 10 Dec 27, 2014 no assertion provided not provided novel not provided 0 0 0 0 0 Laboratory of Molecular Oncology; N.N. Petrov Institute of Oncology 505309 lab Saint-Petersburg Russia 13 Dec 27, 2018 no assertion criteria provided clinical testing, reference population novel Pathogenic, Uncertain significance 1 0 0 0 0 Cytogenetics and Genomics Laboratory; University of Washington 505311 lab 1959 NE Pacific Street, Room NW-125, Seattle, Washington, 98195-6100 United States 67 Apr 15, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 67 0 0 0 0 Andelfinger Lab; Centre de Recherche, CHU Sainte Justine 505313 lab 6 Feb 04, 2016 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 6 0 0 0 Clinical Genetics; Karolinska University Hospital 505315 lab L5:03, Karolinska Universitetslaboratoriet, Solna, Stockholms Lan, 17176 Sweden 7 Oct 23, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 7 0 0 0 0 Department of Molecular and Human Genetics; Baylor College of Medicine 505316 lab Houston, Texas United States 32 Jan 17, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Uncertain significance 7 25 0 0 0 Faculty of Medicine; Iran University of Medical Sciences (IUMS) 505319 other Tehran, Tehran, 1391873556 Iran 1 Oct 15, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Medical Genetics, School of Medicine; Tehran University of Medical Sciences 505323 lab Pour Sina, Tehran, Tehran, 1417613151 Iran 1 Aug 19, 2016 criteria provided, single submitter research novel Uncertain significance 0 1 0 0 0 Institute of Human Genetics; Justus-Liebig University 505324 lab Schlangenzahl 14, Giessen, Hessen, 35392 Germany 1 Sep 01, 2015 no assertion provided not provided novel not provided 0 0 0 0 0 Akiko Shimamura Lab; Fred Hutchinson Cancer Research Center 505325 other 3 Jan 08, 2015 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Dept. of Genetics and Pharmacogenomics; Merck Research Labs 505332 other 33 Ave Louis Pasteur BMB4-106A, Boston, Massachusetts, 02115-5727 United States 79 Oct 06, 2014 no assertion provided in vitro novel not provided 0 0 0 0 0 Deafness Gene Diagnosis; Xijing Hospital 505334 other Xi'an, 710032 China 15 Dec 19, 2014 no assertion criteria provided clinical testing novel Likely pathogenic, Likely benign 15 0 0 0 0 Institute of Human Genetics; Uniklinik RWTH Aachen 505336 lab 6 Jun 15, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 6 0 0 0 0 Clinical Genetics Laboratory; Christian Medical College, Vellore 505338 lab Ida Scudder Road, Vellore, Tamil Nadu, 632004 India 1 Jun 25, 2018 criteria provided, single submitter clinical testing novel Uncertain significance 1 0 0 0 0 Department of Medical Genetics; Shiraz University of Medical Sciences 505343 lab Shiraz Iran 3 Jan 16, 2015 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Chan Lab; Boston Children's Hospital 505344 other 29 Jan 23, 2015 criteria provided, single submitter case-control novel and updates Likely pathogenic 0 0 0 0 0 Center for Narcolepsy; Stanford University 505348 other Palo Alto, California, 94305-5717 United States 4 Dec 10, 2014 no assertion criteria provided case-control novel association 0 0 0 0 0 Department of Paediatric Surgery; The Canberra Hospital 505351 other Yamba Drive, Garran, 2605 Australia 1 Jan 28, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Bone Marrow Failure Laboratory; Queen Mary University of London 505354 lab London, E1 2AT United Kingdom 7 Dec 17, 2015 no assertion criteria provided research novel Pathogenic 0 7 0 0 0 Glaucoma Genetics Lab; University of Iowa 505358 other 1 Jul 21, 2014 no assertion criteria provided case-control, in vitro novel Pathogenic 0 0 0 0 0 Institute of Molecular, Cell and Systems Biology; University of Glasgow 505360 lab University Avenue, Glasgow, G12 8QQ United Kingdom 148 Mar 14, 2018 no assertion criteria provided research novel Pathogenic 0 148 0 0 0 L V Prasad Eye Institute; Hyderabad Eye Research Foundation 505361 other Road No: 2, Banjara Hills, Hyderabad, 500034 India 7 Aug 22, 2015 no assertion criteria provided research novel and updates Uncertain significance 0 7 0 0 0 Human Genetics; Leiden University Medical Centre 505362 other 1 Feb 19, 2015 no assertion criteria provided research novel association 0 1 0 0 0 Elsea Lab, Dept of Molecular and Human Genetics; Baylor College of Medicine 505366 other 6 Jun 05, 2014 no assertion criteria provided clinical testing, research novel Pathogenic 1 5 0 0 0 Institute of Pediatric Research; Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 505367 lab 1665 KongjiangRoad, Shanghai, 200092 China 4 Feb 01, 2018 criteria provided, single submitter clinical testing, research novel Pathogenic 3 1 0 0 0 Service de Génétique Moléculaire; Hôpital Robert Debré 505368 lab 48 boulevard Sérurier, Paris, 75019 France 60 Oct 02, 2017 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 60 0 0 0 0 Clinical Genetics Research Group; University of Calgary 505370 other Calgary, Alberta, T3B 4W2 Canada 30 Jan 17, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic 6 24 0 0 0 Puck Laboratory; University of California, San Francisco 505372 lab UCSF Box 0519513 Parnassus Ave, HSE 301ASan Francisco, CA 94143-0519, San Francisco, California, 94143-0519 United States 4 Aug 22, 2016 criteria provided, single submitter research novel and updates Pathogenic 0 4 0 0 0 Agnes Ginges Centre for Molecular Cardiology; Centenary Institute 505375 lab Camperdown, New South Wales Australia 279 Nov 25, 2019 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 279 0 0 0 AG Schumann; Charité Universitätsmedizin Berlin 505376 other 4 Mar 02, 2015 no assertion criteria provided case-control novel Benign 0 0 0 0 0 Department of Endocrinology and Metabolism; The First Affiliated Hospital of Sun Yet-sen University 505377 lab 58 ZhongShan II Road, Guangzhou, Guangdong China 3 Mar 03, 2015 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Likely benign 3 0 0 0 0 Centre for Translational Omics; University College London 505378 lab 30 Guilford Street, London, WC1N 1EH United Kingdom 14 Jun 12, 2018 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, drug response 13 1 0 0 0 School of Biological Sciences; University of the Punjab 505379 other School of Biological Sciences, Quaid-i-Azam Campus, Lahore, Punjab, 54590 Pakistan 1 Mar 02, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine; Tel Aviv University 505381 other 1 Feb 19, 2015 no assertion criteria provided reference population novel association 0 0 0 0 0 University Children's Hospital; University of Zurich 505382 lab 109 Apr 18, 2017 criteria provided, single submitter clinical testing, literature only novel Pathogenic, Uncertain significance 104 0 5 0 0 Institute of Human Genetics; FAU Erlangen-Nuremberg 505383 lab 1 Mar 11, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 E. Rossignol Lab; CHU Ste-Justine, Universite de Montreal 505384 other CHU Ste-Justine Research Center, Lab , 3175 Cote-Ste-Catherine, Montreal, Quebec, H3T 1C5 Canada 4 Nov 25, 2014 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 Freeman-Sheldon Research Group; deGruyter-McKusick Institute of Health Sciences 505386 other 6670 Old Elkins Road, Buckhannon, West Virginia, 26201 United States 1 Dec 22, 2014 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Molecular and pathophysiological bases of cognitive disorders; Institute Imagine 505390 other 1 Mar 26, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Department of Biochemistry; Quaid-i-Azam University 505391 other 4 Mar 25, 2015 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Duke University Health System Sequencing Clinic; Duke University Health System 505392 other 2 Apr 09, 2015 no assertion criteria provided research novel and updates Pathogenic 0 2 0 0 0 Karolinska institutet; Karolinska Institutet 505395 lab 8 Apr 08, 2015 no assertion criteria provided research novel Likely pathogenic, Uncertain significance, Likely benign 0 8 0 0 0 Molecular Genetic Center; Genetaq 505396 other 1 Mar 24, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Baylor College of Medicine; Baylor College of Medicine 505398 other One Baylor Plaza, NA102, Houston, Texas, 77030 United States 2 Mar 05, 2015 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Innovations Lab, Hyderabad; Tata Consultancy Services Ltd 505400 other 3 Jan 14, 2015 no assertion criteria provided research novel and updates Pathogenic 0 3 0 0 0 Institute for Integrative and Experimental Genomics; University of Luebeck 505401 other 24 Mar 03, 2015 criteria provided, single submitter research novel Likely pathogenic, Likely benign 0 24 0 0 0 Laboratory of Evolutional Genomics; Vavilov Institute of General Genetics RAS 505407 lab Moscow Russia 6 Apr 05, 2015 no assertion criteria provided case-control novel Pathogenic, Uncertain significance, protective 0 0 0 0 0 Centro Diagnostico Italiano 505411 lab via Saint Bon, 20, Milan, Lombardia, 20147 Italy 1 Nov 16, 2015 no assertion criteria provided research novel Uncertain significance 0 1 0 0 0 Abrahams Lab; Albert Einstein College of Medicine 505414 other 3 Dec 22, 2014 criteria provided, single submitter research novel and updates Likely pathogenic, Uncertain significance, Likely benign 0 3 0 0 0 The Canberra Hospital; The Canberra Hospital 505417 lab Yamba Drive, Garran, 2605 Australia 1 Apr 18, 2015 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Section on Endocrinology and Genetics; National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 505422 lab 9000 Rockville Pike, Bldg 10 CRC, Rm 1E-3216, Bethesda, Maryland, 20892 United States 6 Apr 21, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 6 0 0 0 0 Center for Bioinformatics; Peking University 505423 lab No.5 Yiheyuan Road, Haidian District, Beijing, 100871 China 223 Mar 07, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 223 0 0 0 Research lab; Department Functional Genomics and Cancer, Team Leader: Stéphane Viville; Institute of Genetics and Molecular and Cellular Biology 505425 lab 1 Apr 27, 2015 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Science and Research Branch, Islamic Azad University; Islamic Azad Universit 505429 other Tehran, Tehran Iran 7 Aug 28, 2015 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic 7 0 0 0 0 ISCA site 19 505431 lab United States 4457 Aug 17, 2018 no assertion criteria provided clinical testing novel and updates Pathogenic, Uncertain significance, Likely benign, Benign, Benign/Likely benign, conflicting data from submitters 4457 0 0 0 0 Diagnostic Molecular Genetics Laboratory; Memorial Sloan Kettering Cancer Center 505433 lab 1275 York Ave, New York, New York, 10065 United States 6 Apr 13, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic 4 3 0 0 0 National Institute of Mental Health and Neurosciences; National Institute of Mental Health and Neuro Sciences 505434 lab Hosur Main Road, Bangalore, 560029 India 21 Jan 14, 2019 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 21 0 0 0 Department of Genetics, Reproduction and Fetal Medicine.; Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 505435 other 17 Apr 30, 2015 no assertion criteria provided research novel Uncertain significance 0 17 0 0 0 Pediatric Services; National Institutes of Health, Clinical Center 505440 lab 4 Apr 24, 2015 criteria provided, single submitter research novel Uncertain significance 0 4 0 0 0 Dr. Guy Rouleau's laboratory; McGill University 505441 lab Montreal Canada 22 Jun 16, 2015 criteria provided, single submitter research novel and updates Likely pathogenic, Benign 0 22 0 0 0 Tulane Cancer Center; Tulane University 505442 lab 21 Dec 04, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 21 0 0 0 Stanford Center for Inherited Cardiovascular Disease; Stanford University 505443 clinic Stanford United States 1054 Aug 16, 2018 no assertion criteria provided clinical testing, provider interpretation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 509 0 0 0 0 Medical Genetics and Functional Genomics Laboratory; Aix-Marseille University 505448 lab 1 May 26, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Genetics Research Center; University of Social Welfare and Rehabilitation Sciences 505450 lab Koodakyar Street, Daneshjoo Blvd, Evin St, Tehran, Tehran, 1985713834 Iran 9 Oct 01, 2019 criteria provided, single submitter research novel Pathogenic 0 9 0 0 0 Deafness research group, Biosystems & Integrative Sciences Institute; University of Lisbon 505451 other Lisbon Portugal 1 Mar 21, 2015 criteria provided, single submitter clinical testing novel and updates Uncertain significance 1 0 0 0 0 Leeds Vision Research Group; University of Leeds 505453 lab 10 Apr 11, 2016 criteria provided, single submitter case-control, reference population, research novel Pathogenic 0 3 0 0 0 Department of Pediatrics; Kobe University 505454 lab 3 Jun 01, 2015 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Mutsuddi Laboratory, Department of Molecular and Human Genetics; Banaras Hindu University 505457 lab 1 May 28, 2015 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Harry Perkins Institute of Medical Research; University of Western Australia 505459 lab Perth, Western Australia, 6009 Australia 4 Feb 04, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 3 1 0 0 0 Laboratory of Genetic Epidemiology; Research Centre of Medical Genetics 505460 lab 51 Mar 29, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 51 0 0 0 Molecular Genetics and RNA Biology; Humanitas University 505465 lab 3 Jun 26, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 3 0 0 0 Clinical Genetics Unit; Atomic Energy Commission of Syria (AECS) 505468 lab Damascus Syria 3 Jan 25, 2016 criteria provided, single submitter case-control novel Likely benign 0 0 0 0 0 Mayo Clinic Health System - Franciscan Health care; Mayo Clinic Health System 505471 clinic 2 Oct 17, 2014 no assertion criteria provided clinical testing novel and updates Uncertain significance 2 0 0 0 0 Division of Human Genetics; Children's Hospital of Philadelphia 505472 lab Philadelphia, Pennsylvania, 19104 United States 321 Jan 23, 2017 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, not provided 0 321 0 0 0 Translational Genetics in Neurodegenerative disease; Karolinska Institutet 505473 lab 6 Jun 29, 2015 no assertion criteria provided research novel Pathogenic 0 6 0 0 0 Lyon Laboratory; Cold Spring Harbor Laboratory 505474 lab 500 Sunnyside Blvd, Woodbury, New York, 11797 United States 7 Jul 08, 2016 no assertion criteria provided clinical testing, research novel Pathogenic, Uncertain significance 1 6 0 0 0 Department of Hematology; University of Health Sciences 505475 lab 4 Jun 27, 2015 no assertion criteria provided research novel Likely pathogenic, Likely benign 0 4 0 0 0 Institute of Experimental Medicine, Department of Genetics; Istanbul University 505480 lab Vakif Gureba Cad., Istanbul, 34093 Turkey 2 Aug 11, 2015 criteria provided, single submitter case-control novel and updates Pathogenic 0 0 0 0 0 Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes; Institut de génétique et de biologie moléculaire et cellulaire (IGBMC) 505483 lab 109 Jul 17, 2015 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign 109 0 0 0 0 Immunobiology Lab; University of Kashmir 505484 lab 35 Jul 15, 2015 no assertion criteria provided case-control novel Uncertain significance 0 0 0 0 0 Department of Neurology; University Hospital of Strasbourg 505485 clinic 3 Jun 24, 2015 no assertion criteria provided literature only novel Pathogenic 0 0 3 0 0 Centre of Medical Genetics; University of Antwerp 505486 lab 74 Jun 04, 2020 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 74 0 0 0 Scripps Translational Science Institute; Scripps Health and The Scripps Research Institute 505490 lab 3344 North Torrey Pines Court Suite 300, La Jolla, California, 92037 United States 12 Mar 31, 2017 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 12 0 0 0 Kariminejad-Najmabadi Pathology and Genetics Center; KNPGC 505491 lab 1 May 30, 2015 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Foundation Medicine, Inc. 505492 other 150 Second St, Cambridge, 02141 United States 1 Sep 21, 2016 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Child and Family Research Institute; Child and Family Research Institute 505495 lab 3 Aug 11, 2015 criteria provided, single submitter literature only novel Pathogenic 0 0 3 0 0 Medical Genetics UMG; Mater Domini University Hospital/ Magna Graecia University of Catanzaro 505496 lab Viale Europa, Località Germaneto, Catanzaro, 8810 Italy 3 Jan 16, 2019 criteria provided, single submitter clinical testing, in vitro novel Pathogenic 3 0 0 0 0 Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia; Universidade Católica de Brasília 505497 lab 13 Jun 15, 2015 criteria provided, single submitter research novel Pathogenic 0 13 0 0 0 Center for Personalized Medicine; Roswell Park Cancer Institute 505498 lab 2 Jul 16, 2015 no assertion criteria provided case-control novel Likely pathogenic, drug response 0 0 0 0 0 INSERM UMR 1170; INSERM 505499 lab Institut Gustave Roussy, Villejuif, France, Villejuif, 94805 France 4 Jun 18, 2015 criteria provided, single submitter research novel Likely pathogenic 0 4 0 0 0 Care4Rare-SOLVE; CHEO 505503 consortium Ottawa Canada 14 Nov 01, 2019 criteria provided, single submitter clinical testing, research novel Uncertain significance 3 11 0 0 0 GeneKor MSA 505504 lab Spaton 52, Ave., Gerakas, Athens, Attiki, 15344 Greece 775 Mar 06, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 775 0 0 0 0 Laboratory of Human Genetics; Universidade de São Paulo 505505 lab Sao Paulo Brazil 19 Jun 20, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Likely benign 0 19 0 0 0 Biosciences and Nutrition; Karolinska Institutet 505506 lab 1 Aug 26, 2015 no assertion provided research novel not provided 0 1 0 0 0 Curoverse; Curoverse 505507 other 6 Aug 24, 2015 no assertion criteria provided research novel Pathogenic 0 6 0 0 0 Center for Molecular Medicine; University Medical Center Utrecht 505510 clinic 1 May 14, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Center for Human Genetics; University Hospitals Case Medical Center/Case Western Reserve University 505514 lab W.O. Walker Center, 6th Floor, 10524 Euclid Avenue, Cleveland, Ohio, 44106 United States 2 Sep 09, 2015 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 Center for Individualized Medicine; Mayo Clinic 505515 other 9 Sep 10, 2015 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 9 0 0 0 University of Washington Center for Mendelian Genomics; University of Washington 505516 lab Seattle, 98195 United States 431 Jun 03, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 2 429 0 0 0 Servicio inmunologia; Hospital 12 de Octubre 505519 clinic 1 Sep 08, 2015 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 TGen's Center For Rare Childhood Disorders; Translational Genomics Research Institute (TGEN) 505520 lab Phoenix United States 11 Nov 07, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Benign 11 1 0 0 0 Biochemical and Molecular Genetics Department; Hospital Clinic of Barcelona 505524 clinic 1 Aug 11, 2015 criteria provided, single submitter clinical testing novel and updates Pathogenic 1 0 0 0 0 Dr. Faghihi's Medical Genetic Center; Shiraz University of Medical Sciences 505525 lab Zand, Shiraz, Fars, 7134845794 Iran 9 May 20, 2020 criteria provided, single submitter case-control, clinical testing, research novel Pathogenic, Likely pathogenic 3 5 0 0 0 HudsonAlpha Institute for Biotechnology; HudsonAlpha Institute for Biotechnology 505530 lab 601 Genome Way, Huntsville, Alabama, 35806 United States 653 Apr 07, 2020 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, risk factor 0 653 0 0 0 Institute for Ophthalmic Research; University of Tuebingen 505531 lab Elfriede-Aulhorn-Strasse 5-7, Tuebingen, 72076 Germany 166 Dec 03, 2018 criteria provided, single submitter in vitro, in vivo, research novel Pathogenic, Likely pathogenic, Uncertain significance 0 166 0 0 0 DST/NWU Preclinical Drug Development Platform; North-West University 505532 lab NWU Potchefstroom Campus, 11 Hoffmann St., Potchefstroom, North-West, 2520 South Africa 5 Oct 05, 2015 no assertion criteria provided research novel Uncertain significance 0 5 0 0 0 Dobyns Lab; Seattle Children's Research Institute 505533 lab Seattle United States 60 Apr 09, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 5 55 0 0 0 Department of Clinical Genetics; Oxford University Hospitals NHS Foundation Trust 505534 clinic Oxford, Oxfordshire, OX3 9DU United Kingdom 3 Jan 22, 2016 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Northeastern University; Northeastern University 505535 lab 1 Sep 01, 2015 no assertion criteria provided clinical testing novel Benign 1 0 0 0 0 Department of Internal Medicine; University of Texas Health Science Center at Houston 505537 lab Houston, Texas United States 15 Sep 16, 2015 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 15 0 0 0 Human Molecular Genetics Lab; Quaid-i-Azam University 505540 lab 1 Sep 22, 2015 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Genetics; Yale University 505541 lab 1 Sep 24, 2015 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Knight Diagnostic Laboratories; Oregon Health and Sciences University 505542 lab 2525 SW 3rd Ave Ste 350, Portland, Oregon, 97201 United States 246 Jan 19, 2017 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 246 0 0 0 0 Department of Medical Genetics, Faculty of Medicine; Ege University 505543 lab 9 Oct 06, 2015 no assertion criteria provided research novel Pathogenic 0 9 0 0 0 Geha Laboratory; Boston Childrens Hospital 505544 lab 1 Blackfan Circle, Karp 10, Boston, Massachusetts, 02115 United States 1 Dec 03, 2015 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 David Geffen School of Medicine; University of California, Los Angeles 505546 other 6 Mar 18, 2015 no assertion criteria provided research novel Pathogenic 0 6 0 0 0 Gahl Group, Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health 505551 lab 10 center drive, MSC 1851, Bethesda, Maryland, 20892 United States 1 Oct 14, 2015 criteria provided, single submitter research novel and updates Likely pathogenic 0 1 0 0 0 Endocrine Unit 2; University Hospital of Pisa 505553 clinic Pisa, 56124 Italy 5 Sep 18, 2015 criteria provided, single submitter in vitro, literature only, reference population, research novel Pathogenic, Uncertain significance 0 5 1 0 0 Molecular Metabolic laboratory; Sheba Medical Center Tel-Hashomer 505554 lab Ramat Gan, Ramat Gan, Tel Aviv, 52621 Israel 1 Nov 18, 2015 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Medical Biology; Academic Medical Center 505555 lab Meibergdreef 15, Amsterdam, 1105 AZ Netherlands 6 May 20, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 6 0 0 0 Medizinische Klinik 1/ Institut für Bioinformatik; Universitätsklinikum Großhadern, München/ Helmholtz Zentrum München 505556 clinic 8 Sep 09, 2015 no assertion criteria provided research novel Likely pathogenic 0 8 0 0 0 Language and Genetics Department; Max Planck Institute for Psycholinguistics 505558 lab Nijmegen Netherlands 4 Jan 19, 2017 criteria provided, single submitter clinical testing, in vitro novel Pathogenic 4 0 0 0 0 Oral and Maxillofacial Surgery; Tokyo Medical and Dental University 505560 lab Tokyo Japan 6 Oct 20, 2015 criteria provided, single submitter clinical testing novel and updates Pathogenic, Benign 6 0 0 0 0 FRIGE's Institute of Human Genetics; FRIGE's Institute of Human Genetics 505561 lab FRIGE HOuse, Jodhpur Gam road, Satellite, Ahmedabad, Gujarat, 380015 India 2 Dec 01, 2015 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 Neurogenetics of motion laboratory; Montreal Neurological Institute 505563 lab 3801 University,, Montreal, Quebec, H3A 2B4 Canada 8 Sep 08, 2015 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Cytogenetics Laboratory; Banaras Hindu University 505564 lab Varanasi, 221005 India 20 Aug 04, 2018 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 0 0 0 Foundation for Research in Genetics and Endocrinology; FRIGE's Institute of Human Genetics 505565 other FRIGE House, Jodhpur Village Road,, Ahmedabad, Gujarat, 380015 India 300 Jun 10, 2020 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, risk factor 245 55 0 0 0 Division of Blood Purification; Kakanzawa University’ 505566 lab 5 Oct 19, 2015 criteria provided, single submitter research novel Pathogenic 0 5 0 0 0 Albrecht-Kossel-Institute; Medical University Rostock 505567 lab 92 Sep 23, 2015 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance, drug response 0 92 0 0 0 Institute of metabolic science 505568 lab Cambridge United Kingdom 1 Nov 11, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Lupski Lab, Baylor-Hopkins CMG; Baylor College of Medicine 505572 lab Houston, Texas, 77030 United States 929 May 20, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, association 17 913 0 0 0 UOSD Genetics and Genomics of Rare Diseases; Istituto Giannina Gaslini 505573 lab Via G Gaslini, 5, Genova, 16147 Italy 8 Aug 30, 2017 criteria provided, single submitter clinical testing, research novel Pathogenic 1 7 0 0 0 Thoracic Oncology; University of Hawaii Cancer Center 505574 lab 701 Ilalo Street, Honolulu, Hawaii, 96813 United States 1 Oct 20, 2015 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 MOLECULAR BIOLOGY LABORATORY; INSTITUTO NACIONAL DE PEDIATRIA 505575 lab 10 Jan 16, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 10 0 0 0 Hadassah Hebrew University Medical Center 505577 lab Ein Kerem, Jerusalem, 91120 Israel 133 Apr 16, 2020 criteria provided, single submitter clinical testing, literature only, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 127 5 1 0 0 Center for Medical Genomics; Jagiellonian University Medical College 505578 lab Krakow Poland 1 Dec 01, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 College of Pharmacy; University of Babylon 505579 lab 60 st., Al-Hillah, Babil, 51002 Iraq 1 Jan 20, 2016 no assertion criteria provided case-control novel association 0 0 0 0 0 Laboratory of Genetics and Molecular Cardiology; University of São Paulo 505581 lab Av. Dr Enéas de carvalho Aguiar, 44 , São Paulo, Sao Paulo, 05403-900 Brazil 375 Aug 04, 2017 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 91 284 0 0 0 Department of Clinical Genetics; Tartu University Hospital 505582 clinic 2 Puusepa str, Tartu, 51014 Estonia 2 Apr 29, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Metabolic Research Unit; Children's University Hospital Muenster 505583 lab Albert-Schweitzer-Campus 1, Gebaeude A13, Muenster, 48149 Germany 2 Nov 04, 2015 criteria provided, single submitter research novel and updates Pathogenic 0 2 0 0 0 Center for Molecular Medicine; Karolinska Institute 505584 lab Solna, Stockholms Lan, 17176 Sweden 5 Dec 19, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Institute of Biological Psychiatry; Mental Health Centre Sct. Hans, Copenhagen University Hospital 505585 lab 1 Oct 09, 2015 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Dept of Medicine and Surgery; University of Milano-Bicocca 505586 lab 12 Aug 24, 2017 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 12 0 0 0 0 Molecular Genetics Pathology Laboratory; University Of Arkansas for Medical Sciences 505587 clinic Little Rock, Arkansas, 72202 United States 3 Oct 26, 2015 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 3 0 0 0 0 UW Hindbrain Malformation Research Program; University of Washington 505588 lab 1959 NE Pacific Street Box 356320, Seattle, Washington, 98195 United States 294 Jul 06, 2017 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 294 0 0 0 Undiagnosed Diseases Program Translational Research Laboratory; National Institutes of Health 505589 lab Bethesda United States 28 May 07, 2019 criteria provided, single submitter clinical testing, literature only, research novel Pathogenic, Likely pathogenic 1 12 15 0 0 Imagine Institut; INSERM 505590 lab 11 Oct 09, 2018 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic 8 3 0 0 0 Laboratory of Metabolic Disorders; Peking University First Hospital 505591 lab Xian gate street, Beijing, 100034 China 62 Dec 06, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic 32 30 0 0 0 Center of Genomic medicine, Geneva; University Hospital of Geneva 505593 lab Rue Gabrielle Perret-Gentil 4, Geneva, Geneve, 1211 Switzerland 345 Jul 05, 2019 criteria provided, single submitter case-control, clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, risk factor 344 0 0 0 0 LABORATORIO DE MEDICINA GENOMICA; Hospital General de Culiacan 505594 lab Aldama s/n Col. Rosales, Culiacan, Sinaloa, 80230 Mexico 3 Dec 06, 2017 no assertion criteria provided clinical testing novel and updates Pathogenic 3 0 0 0 0 Centro de Genética y Biología Molecular; Universidad de San Martín de Porres 505595 lab Av. Alameda del Corregidor 1531, Urb. Los Sirius, Las Viñas, La Molina, Lima, Lima, Lima 12 Peru 11 Oct 23, 2018 criteria provided, single submitter case-control, clinical testing, provider interpretation, research novel Pathogenic, Likely pathogenic, Uncertain significance 3 5 0 0 0 Veritas Genetics; Veritas Genetics 505598 lab 99 Conifer Hill Dr, Danvers, Massachusetts, 01923 United States 4 Sep 09, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 Miami Human Genetics; University of Miami Miller School of Medicine 505599 lab 1501 NW 10 th Ave BRB 629I.05, Miami, Florida, 33136 United States 1 Nov 24, 2015 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Colorectal Cancer Research Laboratory; Singapore General Hospital 505601 lab 20 College Road, Singapore, 169856 Singapore 7 Jun 09, 2019 criteria provided, single submitter case-control, research novel and updates Likely pathogenic, association 0 4 0 0 0 Max Planck Institute for Molecular Genetics; Max Planck Institute for Molecular Genetics 505602 lab Ihnestr. 63-73, , Berlin, 14195 Germany 1 Nov 30, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 University of Mississippi Medical Center; University of Mississippi 505603 clinic 1 Oct 23, 2015 no assertion criteria provided clinical testing novel and updates Likely pathogenic 1 0 0 0 0 Centro Hospitalar S Joao; Faculty of Medicine of Porto 505604 clinic Alameda Professor Hernani Monteiro, Porto, 4200-319 Portugal 1 Dec 14, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 NeuroMeGen; Hospital Clinico Universitario de Santiago de Compostela 505605 clinic Choupana S/N, Santiago de Compostela, 15706 Spain 150 Nov 15, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 150 0 0 0 0 Zabetian_UW Neurogenetics Lab; University of Washington/VAPSHCS 505608 lab 4 Apr 14, 2016 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 4 0 0 0 Sanford Children's Health Research Center; Sanford-Burnham-Prebys Medical Discovery Institute 505610 lab La Jolla, California United States 3 Oct 26, 2015 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Laboratory of Molecular Genetics (Pr. Bezieau's lab); CHU de Nantes 505613 lab 9 quai Moncousu, Nantes, 44093 France 329 Feb 17, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 311 18 0 0 0 Kruer lab; Phoenix Children's Hospital 505620 lab 425 N 5th St, Phoenix, Arizona, 85004 United States 4 Nov 11, 2015 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Molecular Oncology Laboratory; Centre Jean Perrin 505621 lab 3 Feb 26, 2015 no assertion criteria provided case-control novel association 0 0 0 0 0 Genome Sciences Centre; British Columbia Cancer Agency 505622 lab 570 West 7th Avenue, Vancouver, British Columbia, V5Z 4S6 Canada 66 Jul 25, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 1 65 0 0 0 Institute of Human Genetics; Martin-Luther-Universität Halle-Wittemberg 505624 lab 1 Dec 01, 2014 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics; University of Parma 505625 clinic Via Gramsci, 14, Parma, 43126 Italy 213 Mar 11, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 213 0 0 0 0 Russ Altman Lab; Stanford University 505626 lab 1 Dec 07, 2015 no assertion criteria provided case-control, research novel risk factor 0 1 0 0 0 Centre for Genomic and Experimental Medicine; University of Edinburgh 505630 lab Western General Hospital; Crewe Road, Edinburgh, Midlothian, EH4 2XU United Kingdom 86 Aug 30, 2017 criteria provided, single submitter case-control, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, other 0 49 0 0 0 Institute for Clinical Genetics; TU Dresden 505632 clinic 1 Oct 01, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine; University Medical Center Freiburg 505633 clinic Freiburg Germany 3 Nov 11, 2015 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Paul Sabatier University EA-4555; Paul Sabatier University 505636 lab 65 Aug 31, 2017 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Likely benign 63 9 0 0 0 UCL Genetics Institute; UCL 505637 other 3 Dec 23, 2014 no assertion criteria provided case-control novel and updates Uncertain significance, protective 0 0 0 0 0 Genomic Medicine Lab; University of Southampton 505638 other Southampton General Hospital, Tremona Road, Southampton, Hampshire, SO16 6YD United Kingdom 2 Feb 25, 2015 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 McDonnell Genome Institue; Washington University in St Louis 505640 lab 4444 Forest Park Ave, Saint Louis, Missouri, 63108 United States 43 Jan 02, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 43 0 0 0 Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics 505641 lab INNER RING ROAD, UPPAL, HYDERABAD, Andhra Pradesh, 500039 India 104 Mar 03, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 5 99 0 0 0 Centre for Genomic Medicine, Manchester; Central Manchester University Hospitals 505642 clinic Manchester, Greater Manchester United Kingdom 258 Aug 29, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 258 0 0 0 0 Dr. Peter K. Rogan Lab; Western University 505643 lab 1151 Richmond St, London, Ontario, N6A3K7 Canada 9 Feb 05, 2016 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 9 0 0 0 Karsan Lab; BC Cancer Agency 505644 lab 675 W10th Avenue, Vancouver, British Columbia, BC V5Z 1L3 Canada 13 Jan 04, 2016 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 13 0 0 0 Oxford Medical Genetics Laboratories; Oxford University Hospitals NHS Trust 505647 lab The Churchill Hospital; Old Road, Oxford, Oxfordshire, OX3 7LE United Kingdom 26 Jun 09, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 26 0 0 0 0 Nowon Eulji Medical Center; Nowon Eulji Medical Center 505650 clinic Seoul, 01830 South Korea 1 Sep 23, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Research Centre for Medical Genetics; Research Centre for Medical Genetics 505651 lab Moskvorechie 1, Moscow, 115478 Russia 2 Jul 08, 2016 criteria provided, single submitter in vitro, research novel and updates Pathogenic, Likely pathogenic 0 2 0 0 0 Garry R Cutting Laboratory; Johns Hopkins University 505652 lab Balitmore, Maryland United States 3 Oct 21, 2015 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Prenatal Medicine Munich; Prenatal Medicine Munich 505658 lab Lachnerstrasse 20, Munich, Bayern, 80639 Germany 1 Feb 06, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Agency for Science, Technology and Research; Genome Institute of Singapore 505660 lab 60 Biopolis St, #02-01, Singapore, 138672 Singapore 1 Jun 17, 2014 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Thelma Laboratory; University of Delhi South Campus 505661 lab Benito Juarez Rd, South Campus, South Moti Bagh, South Campus, South Moti Bagh,, New Delhi, Delhi, 110021 India 5 Sep 28, 2018 criteria provided, single submitter clinical testing, research novel Likely pathogenic, Uncertain significance 4 1 0 0 0 Department of Pediatrics; 1st Faculty of Medicine, Charles University in Prague 505662 other Ke Karlovu 2, building E4, Prague 2, Hlavni mesto Praha, 12808 Czech Republic 1 Dec 02, 2014 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Center for Human Disease Modeling; Duke University Medical Center 505664 lab 23 Mar 10, 2019 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 23 0 0 0 Hospital of the University of Pennsylvania; Center for Personalized Diagnostics 505665 lab 4 Jan 11, 2016 criteria provided, single submitter clinical testing novel and updates Pathogenic 4 0 0 0 0 Prostate Cancer Research Center; Institute of Biosciences and Medical Technology, University of Tampere, Finland 505666 lab 61 Jan 28, 2016 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 61 0 0 0 Research Center for Immunodeficiencies; Children's Medical Center, Tehran University of Medical Sciences 505667 lab Tehran Iran 1 Jan 16, 2016 no assertion criteria provided research novel association 0 1 0 0 0 Aziz Sancar Institute of Experimental Medicine; Istanbul University 505669 lab Vakif Gureba cad., Istanbul, Istanbul, 34093 Turkey 10 Jan 22, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, drug response 4 6 0 0 0 Center for Human Genetics; University of Leuven 505670 lab Herestraat 49, Leuven, B-3000 Belgium 204 Apr 05, 2019 criteria provided, single submitter clinical testing, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 188 8 11 0 0 Ludwig Lab, Institute of Human Genetics; University Hospital Bonn 505671 lab Bonn Germany 5 Mar 29, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Center for Neuroscience and Cell Biology; University of Coimbra 505672 lab 43 Dec 30, 2016 criteria provided, single submitter clinical testing, in vitro, research novel and updates Likely pathogenic, Uncertain significance 35 8 0 0 0 HerediLab, Inc.; HerediLab, Inc. 505673 lab Salt Lake City United States 49 Jul 10, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 34 16 0 0 0 BioTalentum Ltd.; BioTalentum Ltd. 505674 lab 1 Jan 27, 2016 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Gene Discovery Core-Manton Center; Boston Children's Hospital 505675 lab Boston, Massachusetts United States 12 Feb 05, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 6 6 0 0 0 National Institute on Deafness and Communication Disorders; National Institutes of Health 505676 lab 35 A, Porter Neuroscience Building, Bethesda, Maryland, 20892 United States 42 Apr 19, 2020 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 42 0 0 0 Genetech; Genetech Research Institute 505682 lab Colombo, 00800 Sri Lanka 1 Feb 04, 2016 no assertion criteria provided case-control novel Uncertain significance 0 0 0 0 0 Laboratory of Genetics, AOUP; Azienda Ospedaliera Universitaria Pisana 505683 lab 2 Aug 22, 2017 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Human Genetics Research Group, DBT; Shri Mata Vaishno Devi University 505684 lab SMVDU Campus, Katra, Jammu and Kashmir, 182320 India 1 Jul 28, 2016 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Molecular and Medical Genetics Group; King's College London 505685 lab 10 Aug 25, 2015 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 10 0 0 0 Department of Medical Genetics; University of Szeged 505686 lab Somogyi utca 4., Szeged, 6720 Hungary 2 Aug 26, 2019 criteria provided, single submitter case-control, clinical testing novel Pathogenic 1 0 0 0 0 Forensic Genetics Laboratory; Harris County Institute of Forensic Sciences 505688 lab 2450 Holcombe Blvd, Suite 7, Houston, Texas, 77021 United States 14 Feb 16, 2016 no assertion criteria provided clinical testing novel Pathogenic 14 0 0 0 0 Genetic Predisposition to Colorectal Cancer Group; Institut d’Investigacions Biomediques August Pi i Sunyer 505690 lab Rossello 153, Barcelona, Catalonia, 08036 Spain 7 Jun 08, 2016 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 6 1 0 0 0 Center for Genomic Medicine; University of Copenhagen 505691 lab Blegdamsvej 9, Copenhagen, DK-2100 Denmark 1 Feb 04, 2016 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Genetic Diagnostic Laboratory; University of Szeged 505693 clinic Korányi fasor 14-15, Szeged, Csongrad, H6725 Hungary 21 Apr 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic 21 0 0 0 0 Sankaran Lab; Boston Children's Hospital 505695 lab 3 Blackfan Circle, CLS 03001, Boston, Massachusetts, 02115 United States 1 Dec 25, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Next Generation Diagnostics; Novartis Institutes for BioMedical Research, Inc. 505696 lab 257 Jan 07, 2016 no assertion criteria provided research novel Uncertain significance 0 257 0 0 0 Erez Levanon lab; Bar Ilan University 505697 lab Max and Anna Web street, Ramat Gan, 5290002 Israel 4 May 05, 2016 criteria provided, single submitter research novel Pathogenic 0 4 0 0 0 Center for Pediatric Genomic Medicine; Children's Mercy Hospital and Clinics 505698 clinic 3956 Apr 27, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 3956 0 0 0 0 Faculty of Pharmacy; Medical University of Gdansk 505699 lab 8 Jun 09, 2015 no assertion criteria provided research novel Uncertain significance 0 8 0 0 0 Medical Biochemical Genetics, National Human Genome institute, NIH; National Institutes of Health 505700 other Bethesda, Maryland United States 9 Jan 07, 2016 no assertion criteria provided clinical testing novel Pathogenic 9 0 0 0 0 Erasmus University Medical Center; Erasmus University Medical Center 505701 clinic Erasmus MC Faculty building; Wytemaweg 80, Rotterdam, 3015 CN Netherlands 341 Jun 26, 2019 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 59 282 0 0 0 Department of Biotechnology; Institute of Molecular and Cell Biology, University of Tartu 505702 lab 220 Dec 08, 2015 criteria provided, single submitter reference population novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 0 0 0 0 Brain and Spine Institute; INSERM 505706 lab 5 Jan 15, 2016 criteria provided, single submitter research novel Pathogenic 0 5 0 0 0 Institute of Human Genetics; LMU University Hospital 505707 clinic 1 Jan 04, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Department of Research and Development; Instituto Hermes Pardini 505709 lab Setor de Pesquisa & Desenvolvimento/Av das nações 2448 - Portaria A Unidade corporativa, Vespasiano, Minas Gerais, 33200-000 Brazil 3 Feb 25, 2016 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Vantari Genetics; Vantari Genetics 505712 lab 27 Technology Dr, Irvine, California, 92618 United States 116 Mar 29, 2016 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance, Likely benign, Benign 116 0 0 0 0 Laboratory of Prof. Karen Avraham; Tel Aviv University 505713 lab Ramat Aviv, Tel Aviv, 69978 Israel 72 Nov 24, 2019 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 72 0 0 0 Sidra Medical and Research Center 505716 other Doha Qatar 1 Apr 21, 2016 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 QMC Molecular Diagnostics; Queen's Medical Center 505717 lab 1301 Punchbowl St., Honolulu, Hawaii, 96813 United States 1 Feb 25, 2016 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Cardiovascular Biomarker Research Laboratory; Mayo Clinic 505718 lab 25 Sep 16, 2016 criteria provided, single submitter research novel and updates Likely pathogenic, Uncertain significance, Likely benign 0 25 0 0 0 Laboratory of Molecular Diagnosis of Cancer; West China Hospital, Sichuan University 505720 lab 37 Guoxue Lane, Chengdu, Sichuan China 117 Feb 27, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 117 0 0 0 Medical Research Institute; Tokyo Medical and Dental University 505721 other 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510 Japan 129 Jul 23, 2018 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, association 0 129 0 0 0 Human Genetics Disease in Children – Taif University; Taif University 505723 lab Taif Saudi Arabia 16 Jun 26, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 16 0 0 0 0 Toronto General Hospital; University of Toronto 505724 lab Toronto, Ontario Canada 1 Feb 26, 2016 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Human Genome and Stem Cell Research Center; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 505725 other 17 Dec 06, 2014 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 17 0 0 0 Department of Pediatrics and Neonatology; Nagoya City University Graduate School of Medical Sciences 505727 lab Nagoya Japan 17 Mar 24, 2020 criteria provided, single submitter case-control, clinical testing, in vitro, research novel Pathogenic, Likely pathogenic 4 11 0 0 0 Neurogenetics group; VIB-University of Antwerp 505728 lab 8 Sep 17, 2018 no assertion criteria provided literature only, research novel Pathogenic, Likely pathogenic 0 7 1 0 0 Choi Lab; Seoul National University 505731 lab 3 Nov 09, 2017 criteria provided, single submitter case-control, in vitro, in vivo, research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Institute for Medical Genetics and Human Genetics; Charité - Universitätsmedizin Berlin 505735 clinic Augustenburger Platz 1, Berlin, Berlin, 13353 Germany 11 Jan 04, 2019 no assertion criteria provided clinical testing, in vitro, research novel Pathogenic, risk factor 2 10 0 0 0 Leeds Amelogenesis Imperfecta Research Group; University of Leeds 505736 lab 8.17 Wellcome Trust Brenner Building, Beckett Street, Leeds, West Yorkshire, LS9 7TF United Kingdom 22 Oct 31, 2019 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 22 0 0 0 Department of Women and Children's Health; University of New South Wales 505739 clinic High Street, Randwick, New South Wales, 2031 Australia 1 Feb 12, 2016 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Australian Red Cross Blood Service 505740 other Kelvin Grove, 4059 Australia 11 Apr 24, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Affects, risk factor 7 4 0 0 0 emedgene Technologies 505741 other Igal Alon, Tel Aviv, 8075 Israel 2 Oct 11, 2016 no assertion criteria provided clinical testing, research novel and updates Pathogenic 1 1 0 0 0 Laboratory Genomica; Gynecology and Assisted Reproduction Hospital Malinov DM 505742 lab Sofia Bulgaria 14 May 08, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 14 0 0 0 0 Fundacion Rioja Salud; Center for Biomedical Research (CIBIR) 505743 lab C/Piqueras 98, Logroño, La Rioja, 26006 Spain 11 Sep 26, 2016 criteria provided, single submitter research novel Pathogenic 0 11 0 0 0 University of Bologna, Medical Genetics Unit; University of Bologna 505744 lab via Massarenti, 9, Bologna, 40138 Italy 1 Mar 21, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Laboratory of Human Molecular Genetics, Department of Medical Research; Taipei Veterans General Hospital 505746 other Taipei, 11217 Taiwan 5 Sep 07, 2015 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 5 0 0 0 Institute for Genomic Medicine; Columbia University Medical Center 505748 lab 701 West 168th St. Hammer Health Sciences Building, New York, New York, 10032 United States 14 Feb 27, 2020 no assertion criteria provided case-control, clinical testing, research novel Pathogenic, Likely pathogenic 2 11 0 0 0 Neurogenetics Laboratory; GH Pitie Salpetriere APHP 505749 lab 47 83 boulevard de l Hopital, PARIS, Ile-de-France, 75013 France 1 Mar 29, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Research Unit for Molecular Medicine, Department for Clinical Medicine; Aarhus University 505750 lab 9 Mar 15, 2016 criteria provided, single submitter research novel and updates Pathogenic, Likely benign 0 9 0 0 0 Blood Cell Research; Sanquin 505752 lab Plesmanlaan 125, Amsterdam, 1066CX Netherlands 7 Feb 20, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 2 5 0 0 0 Flinders Ophthalmology; Flinders University 505754 lab Flinders Drive, Bedford Park, South Australia, 5042 Australia 5 Apr 03, 2016 no assertion criteria provided case-control novel risk factor 0 0 0 0 0 Baylor-Hopkins Center for Mendelian Genomics; Johns Hopkins University 505755 consortium 163 Apr 07, 2020 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 163 0 0 0 Institut Pasteur du Maroc; Institut Pasteur du Maroc 505757 lab Casablanca Morocco 4 Apr 14, 2016 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Centre de Biologie Pathologie Génétique; Centre Hospitalier Universitaire de Lille 505759 lab Lille, Nord-Pas-de-Calais, 59000 France 141 Mar 10, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 140 1 0 0 0 Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University; Nanjing Maternity and Child Health Care Hospital 505762 lab No.123, Tianfeixiang, Mochou Road, Nanjing, Jiangsu, 210004 China 4 Jun 28, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 4 0 0 0 0 Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research; Sun Yat-sen University 505763 lab 1 Apr 28, 2015 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Soonchunhyang University Bucheon Hospital; Soonchunhyang University Hospital 505765 lab 366 Apr 14, 2016 criteria provided, single submitter reference population novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 0 0 Dhiti Omics Technologies Pvt. Ltd. 505766 lab #2/10, Prasad Group Complex, Sanjay Nagar 80 feet road, RMV 2nd stage,, Bangalore, Karnataka, 560094 India 1 Jun 02, 2016 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Centre for Molecular Medicine and Therapeutics; University of British Columbia 505767 lab 1 Apr 09, 2016 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Chelly Lab, Institut de Génétique et de Biologie Moléculaire et Cellulaire; Strasbourg University - CNRS UMR 7104 - Inserm U 964 505768 lab 7 Mar 21, 2017 no assertion criteria provided research novel Pathogenic 0 7 0 0 0 Biology Pathology Center; Lille University Hospital 505770 lab Boulevard du Pr Jules Leclercq, LILLE, 59037 France 32 Mar 09, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 32 0 0 0 0 Rui Chen Lab; Baylor College of Medicine 505773 lab Houston, Texas, 77030 United States 26 May 15, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 26 0 0 0 Human Genetics and Genome Research Division; National Research Centre 505774 other 33 El Bouhouth, Giza, Al Jizah, 12622 Egypt 2 Oct 18, 2016 criteria provided, single submitter case-control, research novel Pathogenic, Likely pathogenic 0 1 0 0 0 Molecular Genetics Department; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 505775 lab Moscow Russia 4 Jan 10, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 2 2 0 0 0 Institute for Biomarker Research; Medical Diagnostic Laboratories, L.L.C. 505776 lab 2439 Kuser Road, Hamilton , New Jersey, 08690 United States 186 May 23, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 186 0 0 0 0 Hospital for Sick Children 505777 lab 15 Apr 23, 2016 no assertion provided in vitro novel not provided 0 0 0 0 0 Hereditary Research Laboratory; Bethlehem University 505778 lab Frere street , Bethlehem , 9 Palestinian Territory 50 Jul 28, 2016 no assertion criteria provided research novel Pathogenic 0 50 0 0 0 Kangwon National University Hospital 505779 clinic Baengnyeong-ro, Chuncheon, Kangwon-do, 24289 South Korea 4 May 14, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic 4 0 0 0 0 Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University; Faculty of Medicine Ramathibodi Hospital, Mahidol University 505780 lab Rama 6 Road, Bangkok, 10400 Thailand 8 May 01, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Benign 8 0 0 0 0 School of Life Sciences; Manipal University 505781 lab Near Planetarium complex, Madhavanagar, Manipal, Karnataka, 576104 India 1 Jun 07, 2016 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Bioinformatics dept.; Datar Cancer Genetics Limited, India 505785 lab F-8, D Road, Ambad MIDC, Nashik, Maharashtra, 422010 India 25 Jul 26, 2017 criteria provided, single submitter case-control, clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 24 0 0 0 0 Children's Hospital DNA Laboratory; University Medical Center Goettingen 505786 lab Robert-Koch-Str. 40, Goettingen, 37075 Germany 1 Apr 24, 2016 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Medical Genetics and Mitochondrial Research group; Latvian Biomedical Research and Study center 505788 lab Ratsupites 1, Riga, LV-1067 Latvia 1 May 13, 2016 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Manipal Health Enterprises Pvt Ltd; Manipal Hospital 505789 other Bangalore India 4 Dec 30, 2016 no assertion criteria provided clinical testing novel and updates Likely pathogenic, Uncertain significance 4 0 0 0 0 Department of Biological Science; Sunandan Divatia School of Science, NMIMS University 505790 lab V L Mehta Road Vile Parle (W), Mumbai, Maharashtra, 400056 India 11 Mar 06, 2019 criteria provided, single submitter case-control novel association, association not found 0 0 0 0 0 MS Genetics Lab; University of British Columbia 505791 lab Vancouver Canada 1 May 09, 2016 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 National Research Council; Institute of Genetics and Biomedical Research 505792 lab c/o Cittadella Universitaria di Cagliari, Monserrato (CA), Sardegna, 09042 Italy 6 Oct 26, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 6 0 0 0 Cancer Genetics Laboratory; Peter MacCallum Cancer Centre 505793 lab 96 Aug 13, 2015 criteria provided, single submitter case-control novel Likely pathogenic, Uncertain significance, Likely benign 0 0 0 0 0 Petrovsky National Research Centre of Surgery; The Federal Agency for Scientific Organizations 505794 lab 2, Abricosovskiy Pereulok, Moscow, Moscow City, 119991 Russia 70 Mar 06, 2020 criteria provided, single submitter clinical testing, curation, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 50 16 0 4 0 Laboratorio de Biomedicina; Instituto de Biotecnología de Misiones 505795 lab Ruta 12 km 7,5, Posadas, Misiones, 3304 Argentina 1 May 17, 2016 no assertion criteria provided research novel risk factor 0 1 0 0 0 Department of Oral Pathology; Peking University School and Hospital of Stomatology 505797 other 22 South Zhongguancun Avenue,Haidian District, Beijing, Beijing, 100081 China 2 May 17, 2016 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Department of Cardiovascular and Internal Medicine (Kanazawa University, Graduate School of Medicine); Kanazawa University Graduate School of Medicine 505799 lab 1 May 31, 2016 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Institute of Molecular Biology and Genetics; Federal Almazov North-West Medical Research Centre 505805 clinic 2 Akkuratova street, Saint Petersburg, Saint Petersburg City, 197341 Russia 22 May 23, 2018 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 1 21 0 0 0 Laboratory of Molecular Genetics; CHU Rennes 505806 lab 2 rue Henri le Guilloux, Rennes, Bretagne, F_35033 France 67 Dec 30, 2016 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance 67 0 0 0 0 Department of Endocrinology; The Affiliated hospital of QingDao University 505807 other No.16 Jiangsu Road, QingDao, 266003 China 2 Nov 04, 2015 no assertion criteria provided clinical testing novel Likely pathogenic 2 0 0 0 0 Inherited Metabolic Diseases Molecular Laboratory; University of Cape Town / National Health Laboratory Services 505808 lab Anzio Road, Cape Town, Western Cape, 7925 South Africa 1 Jun 17, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Laboratory of Molecular Genetics; National Institute of Health 505809 lab Porter Neuroscience Research Center, National Institutes of Health, 35A Convent Drive, Bethesda, Maryland, 20892, Bethesda, Maryland, 20892-3729 United States 4 Aug 30, 2016 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 4 0 0 0 Myllykangas group; University of Helsinki 505811 lab Helsinki Finland 5 Jun 21, 2017 no assertion criteria provided research novel Uncertain significance, Likely benign 0 5 0 0 0 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease; Montreal Heart Institute 505816 lab 5000, rue Bélanger, Montréal, Quebec, H1T 1C8 Canada 847 Feb 19, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor, other 847 0 0 0 0 Department of Ophthalmology; Flinders Medical Centre 505817 lab 1 Flinders Drive, Bedford Park, South Australia, 5042 Australia 3 Jun 25, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 2 0 0 0 Diagnostic Laboratory; Strasbourg University Hospital 505818 lab Strasbourg France 36 Apr 30, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 35 1 0 0 0 Geschwind lab; University of California Los Angeles 505819 lab 95 Jun 13, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, association 0 95 0 0 0 Clinical Cytogenomics Laboratory; Laboratory for Precision Diagnostics, University of Washington 505820 lab 268 May 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 268 0 0 0 0 Neuromuscular disorders lab; University of Helsinki 505821 lab Helsinki Finland 3 Nov 22, 2017 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Medical Genetic Institute of Henan Province; Henan Provincial People’s Hospital 505825 clinic No. 7 Weiwu Road, Zhengzhou, Henan, 450003 China 1 Feb 21, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 International Peace Maternity and Child Health Hospital; Shanghai Jiao Tong University School of Medicine 505826 clinic Shanghai China 20 Mar 04, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 20 0 0 0 0 Bioscientia Institut fuer Medizinische Diagnostik GmbH; Sonic Healthcare 505827 lab Konrad-Adernauer-Strasse 17, Ingelheim, Rheinland-Pfalz, 55218 Germany 1014 Mar 06, 2020 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1014 0 0 0 0 Laboratorio de Genetica do Desenvolvimento - CEGH; Universidade de Sao Paulo 505828 lab Rua do Matao 277 room 200, São Paulo, Sao Paulo, 05508090 Brazil 3 Jun 17, 2016 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Department of Medical Biochemistry and Genetics; University of Turku 505830 lab 1 May 31, 2016 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Institute of Human Genetics, Univ. Regensburg; Univ. Regensburg 505832 lab 177 May 25, 2016 criteria provided, single submitter clinical testing, in vitro novel and updates Pathogenic, Likely pathogenic, Uncertain significance 177 0 0 0 0 Genetic Testing Lab; Ashok And Rita Patel Institute of Integrated Study And Research in Biotechnology and Allied Sciences 505833 other New Vallabh Vidyanagar, Anand, Gujarat, 388121 India 39 Jan 18, 2016 no assertion criteria provided research novel drug response 0 39 0 0 0 MIND Institute, Wet lab; University of California Davis 505837 lab Sacramento, California, 95817 United States 1 Jul 08, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Clinics for Rare Diseases Referral (Hong Kong); The University of Hong Kong 505839 lab Queen Mary Hospital, Hong Kong Hong Kong 2 Oct 31, 2016 no assertion criteria provided clinical testing, research novel Likely pathogenic 1 1 0 0 0 Universitätsklinikum Salzburg; Universitätskinderklinik 505840 clinic 3 Jun 19, 2016 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 3 0 0 0 0 Erich and Hanna Klessmann Institute for Cardiovascular Research and Development; Heart and Diabetes Center North Rhine-Westphalia 505841 clinic 65 Jun 24, 2016 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 58 7 0 0 0 Department of Molecular and Medical Genetics; Osaka Medical Center for Cancer and Cardiovascular Diseases 505842 lab 1-3-3, Nakamichi, Higashinari-ku, Osaka, Osaka, 537-8511 Japan 1 Jun 24, 2016 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 IUMS Hospital Medical Genetics Lab; Iran University of Medical Sciences (IUMS) 505843 lab Crossroads of Hemmat & Chamran expressways, Tehran, Tehran, 14496-14535 Iran 10 Jan 18, 2017 no assertion criteria provided clinical testing novel Pathogenic 10 0 0 0 0 UDP Translational Laboratory; National Institute of Health 505844 lab 5625 Fishers Lane,, Rockville, Maryland United States 1 Dec 23, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Marco Cassone, private practice; Marco Cassone, clinical geneticist 505846 other via Caitina n 74, modica, Sicilia, 97015 Italy 1 May 11, 2019 criteria provided, single submitter reference population novel Pathogenic 0 0 0 0 0 Medical Genetics; University of Pavia 505848 lab via Forlanini, 14, Pavia, 27100 Italy 5 Dec 26, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 5 0 0 0 0 Color 505849 lab Burlingame, California, 94010 United States 43494 May 19, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 43494 0 0 0 0 Beijing Municipal Key Laboratory; Capital Institute of Pediatrics 505851 lab Room 616, Keyan Building, No.2, Yabao Road, Chaoyang District, Beijing, Beijing, 100020 China 7 Jul 08, 2016 no assertion criteria provided case-control novel Pathogenic, risk factor 0 0 0 0 0 Dipartimento di Medicina Molecolare e Biotecnologie Mediche; Federico II University of Naples 505852 clinic Via Pansini, 5, Napoli, 80145 Italy 1 Jul 11, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Center for Statistical Genetics; Columbia University 505853 lab NYC, New York, 10032 United States 70 Mar 24, 2020 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 70 0 0 0 Cardiovascular Research Laboratory; Shanghai Chest Hospital, Shanghai Jiao Tong University 505860 lab 241 West Huaihai Road, Shanghai, Shanghai, 200030 China 3 Oct 30, 2019 criteria provided, single submitter case-control, in vitro novel Pathogenic 0 0 0 0 0 Donald Williams Parsons Laboratory; Baylor College of Medicine 505863 lab 1 Baylor Plaza, Houston, Texas, 77030 United States 83 Aug 18, 2016 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, other 57 26 0 0 0 Sharon E. Plon Laboratory; Baylor College of Medicine 505864 lab Houston, Texas, 77030 United States 2 Apr 07, 2016 criteria provided, single submitter in vitro, in vivo, research novel Pathogenic 0 2 0 0 0 Center for Genomic Medicine; Kyoto University Graduate School of Medicine 505865 lab Kyoto Japan 9 Jul 13, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 9 0 0 0 0 Personalized Diabetes Medicine Program; University of Maryland School of Medicine 505866 lab Baltimore, Maryland, 21201 United States 430 Feb 19, 2020 criteria provided, single submitter research novel and updates Pathogenic, Uncertain significance, Likely benign, Benign 0 430 0 0 0 Translational Genomics Laboratory; University of Maryland School of Medicine 505867 lab Baltimore, Maryland, 21201 United States 32 Oct 05, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 32 0 0 0 0 Department of Zoology; University of the Punjab, Lahore 505868 other LAHORE, 54000 Pakistan 7 Nov 29, 2018 no assertion criteria provided case-control novel risk factor, association 0 0 0 0 0 Paisan-Ruiz Laboratory; Icahn School of Medicine at Mount Sinai 505869 lab One Gustave L. Levy Place, Box 1497, New York, New York, 10029-6574 United States 2 Feb 10, 2017 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 CeGaT Praxis fuer Humangenetik Tuebingen 505870 lab Paul-Ehrlich-Str. 23, Tuebingen, 72076 Germany 19459 May 18, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 19459 0 0 0 0 Database of Curated Mutations; Washington University in St Louis 505871 resource St Louis, Missouri, 63108 United States 6947 Jul 18, 2016 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, not provided 0 0 6947 0 0 University of Arizona Genetics Core; University of Arizona 505876 other 2 Dec 24, 2014 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Department of Medical Genetics; National Institute of Health 505877 lab 27, Avenue Ibn Batouta, Rabat, Rabat-Sale, 11400 Morocco 3 Oct 21, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Department of Ophthalmology; Flinders University 505878 other 17 Aug 02, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Benign 17 0 0 0 0 Central Haematology Laboratory; Luzerner Kantonsspital 505883 lab Spitalstrasse, Luzern, Luzern, 6000 Luzern 16 Switzerland 3 Aug 03, 2016 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 3 0 0 0 Charité Universitätsmedizin Berlin; Charite Universitaetsmedizin Berlin 505885 clinic Augustenburger Platz 1, Berlin, Berlin, 13353 Germany 3 May 05, 2020 criteria provided, single submitter case-control, clinical testing, in vitro, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Institute of Biochemistry, Molecular Biology and Biotechnology; University of Colombo 505886 lab 90, Cumaratunga Munidasa Mawatha,Colombo 03, Colombo, Colombo, 00300 Sri Lanka 1 Aug 09, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Laboratory of Personalized Genomic Medicine; Columbia University Medical Center 505887 lab 630 West, 168th Street, New York, New York, 10032 United States 1 Aug 04, 2016 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Medical Genetics Section; University of Rome Tor Vergata 505888 lab Via Montepllier, 1, Rome, 00133 Italy 2 Aug 31, 2016 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Reutter Lab, Institute of Human Genetics; University Hospital Bonn 505890 lab 30 Mar 25, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 30 0 0 0 Medical Genetics Unit; Zeynep Kamil Women and Children's Hospital 505891 clinic Istanbul Turkey 1 Aug 17, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics; Meyer Children Hospital 505894 lab Viale Pieraccini 24,, Florence Italy 2 Dec 30, 2016 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Research Group Niklas Dahl; Uppsala University 505896 lab Box 815, Uppsala, 75108 Sweden 6 Oct 22, 2019 criteria provided, single submitter phenotyping only, research novel Pathogenic, Likely pathogenic 0 6 0 0 1 Thoracic and Gastrointestinal Oncology Branch/CCR/NCI; National Institutes of Health 505899 lab 9000 ROCKVILLE PIKE, Bethesda, Maryland, 20892 United States 3 Aug 22, 2016 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic 0 3 0 0 0 Department of Medical Genetics; University Hospital of North Norway 505900 lab Tromso Norway 32 Sep 20, 2016 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance, Likely benign, Benign 32 0 0 0 0 Shendure Lab; University of Washington 505901 lab 2 Aug 10, 2016 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Christopher A. Walsh Laboratory; Boston Children's Hospital 505902 lab 300 Longwood Avenue, BCH3150, Boston, Massachusetts, 02115 United States 3 Apr 17, 2020 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Medical Molecular Genetics Department; National Research Center 505907 lab El Buhouth st., Dokki, Cairo, 12311 Egypt 76 Apr 16, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 56 20 0 0 0 Laboratory of NeuroGenetics and Regenerative Medicine; University of Maryland School of Medicine 505908 lab 800 West Baltimore St, Room 404, Baltimore, Maryland, 21201 United States 8 Sep 06, 2019 criteria provided, single submitter research novel Pathogenic 0 8 0 0 0 Cardiovascular Research Group; Instituto Nacional de Saúde Doutor Ricardo Jorge 505909 lab Av. Padre Cruz, 1649-016, Lisboa Portugal 403 Apr 17, 2017 criteria provided, single submitter curation, literature only, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 257 146 146 0 U4M - Lille University & CHRU Lille; Université de Lille - CHRU de Lille 505910 lab Faculte de Medecine, EGID, 1 place de Verdun , Lille , 59045 France 346 Mar 31, 2017 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Likely benign 346 0 0 0 0 Institute of Human Genetics; University of Wuerzburg 505911 lab Am Hubland, Wuerzburg, Bayern, 97074 Germany 170 Nov 18, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 170 0 0 0 0 Korbonits Lab; Institute of Cancer Research, London 505912 lab London, EC1M 6BQ United Kingdom 2 Aug 19, 2016 criteria provided, single submitter research novel Likely pathogenic, Uncertain significance 0 2 0 0 0 Children's Diabetes Center; University of Wisconsin-Madison 505916 lab Madison, Wisconsin United States 1 Sep 22, 2016 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Programa de Ciencias Genomicas e Biotecnologia; Universidade Catolica de Brasilia 505918 lab Brasilia Brazil 1 Sep 08, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics; Nice Hospital - IRCAN 505920 lab Nice France 2 Sep 14, 2016 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Pediatrics Research Institute; Children's Hospital of Fudan University 505921 clinic 1 Sep 15, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Weber Lab; Hannover Medical School 505922 lab Carl-Neuberg-Str. 1, Hannover, Niedersachsen, 30625 Germany 9 Sep 14, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 9 0 0 0 Genetics of Mitochondrial Disorders; HelmholtzZentrum Munchen 505923 lab Ingolstadter Landstr. 1, Neuherberg, 85764 Germany 1 Sep 14, 2016 no assertion criteria provided in vivo novel and updates Pathogenic 0 0 0 0 0 Molecular Endocrinology Laboratory; Poznan University of Medical Sciences 505924 other Przybyszewskiego 49, Poznan, Poznan, 60-355 Poland 9 Sep 14, 2016 no assertion criteria provided research novel Likely pathogenic 0 9 0 0 0 Human Genetics - Radboudumc; Radboudumc 505925 lab Geert grooteplein zuid 10, Nijmegen, 6525 GA Netherlands 178 Aug 15, 2017 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 178 0 0 0 0 Talkowski Laboratory, Center for Human Genetic Research; Massachusetts General Hospital 505929 lab 185 Cambridge St, Boston, Massachusetts, 02114 United States 248 Sep 23, 2016 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 248 0 0 0 Hereditary Risk Evalutation Team; Medical School Hannover 505933 lab Carl-Neuberg Strasse 1, Hannover, D-30625 Germany 1 Nov 29, 2017 criteria provided, single submitter clinical testing novel Uncertain significance 1 0 0 0 0 International Pleuropulmonary Blastoma Registry; Children's Hospitals and Clinics of Minnesota 505935 other 2525 Chicago Avenue South, Minneapolis, Minnesota, 55404 United States 83 Dec 01, 2014 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 83 0 0 0 0 Clinical Genetics Laboratory of Dermatology; Peking University First Hospital 505937 lab Beijing, 100034 China 3 Sep 26, 2016 criteria provided, single submitter in vitro, research novel and updates Pathogenic 0 3 0 0 0 Department of Metabolic Diseases; Wilhelmina Children's Hospital 505940 clinic Lundlaan 6, Utrecht, Utrecht, 3584EA Netherlands 2 Oct 03, 2016 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 GenePathDx; Causeway Health Care Private Ltd 505942 lab Jangli Maharaj Road, Pune, Maharashtra, 411004 India 30 Oct 11, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 30 0 0 0 0 Department of Medical Genetics; Sanjay Gandhi Post Graduate Institute of Medical Sciences 505943 other Raebareli road, Lucknow, Uttar Pradesh, 226014 India 38 Aug 08, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 38 0 0 0 0 Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 505944 lab Lochhamer Strasse 29, Martinsried, Bayern, 82152 Germany 431 Mar 06, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 416 15 0 0 0 Department of Medical Genetics; Gazi University 505945 lab Faculty of Medicine Dept of Med Genetics, Ankara, 06500 Turkey 6 Jun 24, 2018 no assertion criteria provided clinical testing, research novel and updates Pathogenic 4 2 0 0 0 Malformation Genetics; Karolinska Institutet 505946 lab Karolinska vägen 6, Solna, 17176 Sweden 2 Sep 08, 2017 criteria provided, single submitter research novel Uncertain significance 0 2 0 0 0 American University of Beirut; Same Uiversity Hospital 505948 lab Beirut Lebanon 2 Aug 11, 2016 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Centre for Genomic Sciences; University of Hong Kong 505949 lab Sassoon road 05, Pok Fu Lam, Hong Kong, 10001 Hong Kong 4 Jan 24, 2017 no assertion criteria provided in vivo novel Likely pathogenic 0 0 0 0 0 Biochimie Génétique et moléculaire; CHUGA 505950 lab CHU de Grenoble- Université Grenoble Alpes CEDEX9, Grenoble, 38043 France 3 Oct 22, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 2 0 0 0 Centre for Mendelian Genomics; University Medical Centre Ljubljana 505952 clinic Slajmerjeva 3, Ljubljana, 1000 Slovenia 1082 May 21, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 1082 0 0 0 0 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA); c/o University of Cambridge 505954 consortium 2 Worts Causeway, Cambridge, Cambridgeshire, CB1 8RN United Kingdom 3324 Oct 28, 2016 criteria provided, single submitter clinical testing novel and updates Pathogenic 3324 0 0 0 0 Alexion Pharmaceuticals, Inc 505957 other 121 Seaport Blvd, Boston, Massachusetts, 02210 United States 39 Aug 16, 2019 criteria provided, single submitter research novel Likely pathogenic 0 39 0 0 0 Laboratory of Research in Genomics, Genetics and Bioinformatics; Hospital Infantil de Mexico Federico Gomez 505958 lab Dr Marquez 162, Col. Doctores, Mexico City, Distrito Federal, 06720 Mexico 4 Nov 20, 2019 no assertion criteria provided case-control, in vitro, research novel Pathogenic, Likely pathogenic 0 2 0 0 0 Institute of Experimental Endocrinology; Slovak Academy of Sciences 505959 lab Bratislava, 84505 Slovakia 9 Aug 01, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 9 0 0 0 0 GENETICS INSTITUTE; National university of Colombia 505960 other Diagonal 53 No 37, building 426, Bogota , Distrito Especial, 111311 Colombia 1 Jan 10, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Clinical Pharmacogenetics Implementation Consortium; St. Jude Children's Research Hospital and Stanford University 505961 consortium Memphis, Tennessee United States 2469 Mar 01, 2018 practice guideline curation novel and updates drug response 0 0 0 2469 0 Aziz Sancar Institute of Experimental Medicine, Department of Genetics; Istanbul University 505963 lab Istanbul Turkey 1 Aug 25, 2016 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Hereditary Hearing Loss Research Unit; University of Madras 505964 lab Dept. of Genetics, Dr. Almpg Institute of Basic Medical Sciences, Taramani Campus, Chennai, 600113 India 11 Feb 22, 2020 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 2 9 0 0 0 Molecular Diagnostics Lab; GoPath Laboratories 505965 lab Buffalo Grove, Illinois, 60089 United States 1 Oct 15, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Department of Immunology; Hospital Universitario Virgen del Rocio 505967 lab Av. Manuel Siurot wo/n, Seville, Andalucia, 41013 Spain 17 Jun 27, 2017 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Metabolic Liver Diseases Lab; Fondazione IRCCS Ca Granda Policlinico, University of Milan 505970 lab Via Francesco Sforza, 35, Milan, Lombardia, 20122 Italy 16 Mar 14, 2019 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 0 0 0 Kamineni Academy of Medical Sciences & Research Centre; Kamineni Hospitals 505974 clinic LB Nagar, Hyderabad, Andhra Pradesh, 500068 India 3 May 05, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Zuffardi lab; University of Pavia 505976 lab Via Forlanini, 14, Pavia, Lombardia, 27100 Italy 12 Oct 26, 2016 no assertion criteria provided clinical testing novel Pathogenic 12 0 0 0 0 Neurology Department; Peking University First Hospital 505977 clinic Beijing China 4 Nov 05, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 Human Genetics Unit; University of Colombo 505980 lab No. 25 Kynsey Rd, Colombo 08, Western, 00800 Sri Lanka 5 Jul 26, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 5 0 0 0 0 Molecular Genetics and Enzymology; National Research Centre 505981 lab Cairo Egypt 6 Mar 30, 2017 no assertion criteria provided research novel Pathogenic 0 6 0 0 0 Pediatric Highly Intensive Care Unit; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 505988 clinic 2 Nov 09, 2016 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Robarts Research Institute; Western University 505989 lab 1151 Richmond Street North, London, Ontario, N6A 5B7 Canada 370 Aug 22, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 370 0 0 0 0 IntelligeneCG 505990 lab 10900 S Clay Blair Blvd, suite 1400 , Olathe, Kansas, 66061 United States 13 Aug 29, 2017 criteria provided, single submitter clinical testing novel Benign 13 0 0 0 0 Kasturba Medical College; Manipal University 505991 lab Madhav Nagar, Manipal, Karnataka, 576104 India 36 Oct 20, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, association 7 29 0 0 0 Daryl Scott Lab; Baylor College of Medicine 505993 lab R813, One Baylor Plaza, BCM225, Houston, Texas, 77030 United States 34 Apr 06, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, risk factor 23 11 0 0 0 Neurogenetics Laboratory - MEYER; AOU Meyer 505994 lab Viale Pieraccini 24, Florence, Toscana, 50139 Italy 70 May 22, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 69 1 0 0 0 Lab of Molecular Dermatology; University Medical Center Freiburg 505995 lab Hauptstrasse 7, Freiburg, 79104 Germany 1 Nov 17, 2016 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Cardiogenetics; Center of Medical Genetics, Antwerp, Belgium 505996 lab Prins Boudewijnlaan 43, Edegem, Antwerpen, B-2650 Belgium 2 Nov 03, 2016 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 MVZ Praenatalmedizin und Genetik Nuernberg 505997 lab Nuremberg, Bayern, 90402 Germany 24 Nov 25, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 24 0 0 0 0 NIHR Bioresource Rare Diseases; University of Cambridge 505998 consortium Cambridge United Kingdom 1995 May 13, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 1 1994 0 0 0 Undiagnosed Diseases Network; National Institutes of Health 505999 consortium Bethesda, Maryland United States 388 Apr 30, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 382 6 0 0 0 Heart Center 506004 lab Meibergdreef 9, Amsterdam, Noord-Holland, 1105AZ Netherlands 12 Apr 08, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Benign 2 10 0 0 0 Genetics; Medical University of Vienna 506006 lab Waehringer Guertel 18-20, Vienna, Wien, A-1090 Austria 10 Apr 23, 2017 no assertion criteria provided clinical testing novel Likely pathogenic 10 0 0 0 0 Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital; Bhabha Atomic Research Centre 506007 lab Anushaktinagar, Mumbai, Maharashtra, 400094 India 1 Feb 27, 2020 no assertion criteria provided clinical testing novel and updates Pathogenic 1 0 0 0 0 Center for Breast Cancer; National Cancer Center 506009 lab Goyang, Kyonggi-do, 10408 South Korea 1 Dec 16, 2016 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 A.C.Camargo Cancer Center / LGBM; A.C.Camargo Cancer Center 506010 lab Rua Tagua, 440, São Paulo, Sao Paulo, 01508-010 Brazil 92 Feb 11, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 92 0 0 0 Kere lab; Karolinska Institutet 506011 lab Hälsovägen 8, Huddinge, S-14 183 Sweden 2 Mar 28, 2017 no assertion criteria provided research novel Uncertain significance 0 2 0 0 0 Rappaport Faculty of Medicine; Technion-Israel Institute of Technology 506012 lab Haifa Israel 2 Apr 20, 2017 no assertion criteria provided clinical testing, research novel Pathogenic 1 1 0 0 0 Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde; INSERM - Université Paul Sabatier 506014 lab Toulouse France 5 Jan 24, 2017 no assertion criteria provided provider interpretation, research novel Likely pathogenic 0 5 0 0 0 Clinical Molecular and Personalized Diagnostics; Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 506015 lab Largo Francesco Vito, 8, Roma, Lazio, 00168 Italy 2 Jun 22, 2017 criteria provided, single submitter clinical testing, phenotyping only novel Pathogenic 1 0 0 0 1 Demoulin lab; University of Louvain 506016 lab avenue Hippocrate 75, box B1.74.05, Brussels, BE-1200 Belgium 7 Feb 15, 2017 criteria provided, single submitter in vitro, research novel Pathogenic 0 7 0 0 0 Research and Development; ARUP Laboratories 506018 lab Salt Lake City, Utah, 84108 United States 1676 Sep 20, 2019 criteria provided, single submitter case-control, clinical testing, curation, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, not provided 1027 0 643 2 0 Department of Orthopeadics and Traumatology; Nanfang Hospital, Southern Medical University 506019 other 1838 Guangzhou Avenue (N), Guangzhou, Guangdong, 510515 China 8 Jan 27, 2017 no assertion criteria provided case-control novel association 0 0 0 0 0 Human Development and Health; University of Southampton 506020 lab 5 Dec 09, 2016 no assertion criteria provided research novel association 0 5 0 0 0 Hauner Childrens Hospital, Department of Pediatrics; Dr. von Hauner Children's Hospital; Ludwig Maximilians University 506022 lab Lindwurmstrasse 4, Munich, 80337 Germany 3 Nov 05, 2016 no assertion criteria provided in vitro, in vivo, research novel Pathogenic 0 3 0 0 0 National Centre for Medical Genetics; Crumlin Children's Hospital, Dublin 506023 lab Drimnagh Road, Dublin, Dublin Ireland 1 Dec 15, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 The Molecular Genetic Diagnosis Center; Children’s Hospital of Fudan University 506025 clinic 399 Wanyuan Road, Minhang District, Shanghai, Shanghai, 200032 China 54 Mar 04, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 54 0 0 0 0 Center of Medical Genetics and Primary Health Care 506026 clinic Yerevan Armenia 68 Jun 09, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign, risk factor 1 67 0 0 0 Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies; APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 506030 lab 47-83 Boulevard de l'Hôpital, Paris, Ile-de-France, 75013 France 435 Oct 19, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 435 0 0 0 0 Bruce Lefroy Centre; Murdoch Childrens Research Institute 506032 lab Flemington Road, Parkville, 3052 United States 14 Apr 22, 2020 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 14 0 0 0 Heinzen Lab; Columbia University 506035 lab 630 W 168th St, 11-401, New York, New York, 10032 United States 2 Feb 09, 2017 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Pôle de Biologie Pathologie Génétique; CHRU LILLE 506036 lab Boulevard du Pr. Jules Leclercq, LILLE, Nord-Pas-de-Calais, 59037 France 1 Dec 22, 2016 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Tim Yu lab; Boston Children's Hospital 506037 lab 300 Longwood Avenue, Mailstop BCH3150, Boston, Massachusetts, 02115 United States 4 Jul 24, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Uncertain significance 1 3 0 0 0 Biochimie-Hormonologie; Robert Debre Hospital 506038 lab Paris, 75019 France 2 Dec 21, 2016 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Equipe Genetique des Anomalies du Developpement; Université de Bourgogne 506039 lab Dijon, 21000 France 703 Oct 17, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, drug response, risk factor 601 102 0 0 0 Hunter Genetics General Clinical Genetics Service; Hunter Genetics 506041 clinic Turton Road, Waratah, New South Wales, Australia, Waratah, New South Wales, 2298 Australia 1 Jan 25, 2017 no assertion criteria provided in vitro, research novel Pathogenic 0 1 0 0 0 Molecular Genetics Laboratory; Centre for Cardiovascular Surgery and Transplantation 506042 lab Vystavni 17/19, Brno, 60300 Czech Republic 201 Mar 30, 2017 criteria provided, single submitter clinical testing, in vitro novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 201 0 0 0 0 Molecular Pathology, SA Pathology 506043 lab Flinders Medical Centre, Flinders Drive, Bedford Park, South Australia, 5043 Australia 35 Feb 22, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 35 0 0 0 0 Division of Medical Genetics; Sainte-Justine Hospital 506044 lab Montreal, Quebec Canada 18 Dec 22, 2014 no assertion criteria provided literature only novel Pathogenic 0 0 18 0 0 The Genetics Institute; Rambam Health Care Campus 506047 lab HaAliya HaShniya St 8, Haifa, 3109601 Israel 13 Dec 04, 2019 criteria provided, single submitter clinical testing, literature only, research novel Pathogenic, Likely pathogenic 5 7 1 0 0 Centre for Molecular Diagnostics & Cell Biology; Rajiv Gandhi Cancer Institute & Research Center 506048 lab Sec 5 Rohini, Delhi, Delhi, 110085 India 6 May 21, 2018 criteria provided, single submitter clinical testing, in vitro novel and updates Pathogenic, Likely pathogenic, Uncertain significance 5 0 0 0 0 Institute of Basic Medical Sciences; Khyber Medical University, Peshawar 506049 other Phase V, Hayatabad, Pesahawar, 0000 Pakistan 3 Feb 03, 2017 no assertion criteria provided research novel Likely pathogenic 0 3 0 0 0 Zhongshan School of Medicine; Sun Yat-sen University 506051 other No.74, Zhongshan 2 Road, Guangzhou, N/A China 1 Feb 03, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Division of Laboratory Medicine and Clinical Genetics; Chiba University Hospital 506053 clinic Chiba, Chiba Japan 1 Feb 03, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Centro de Desenvolvimento Científico e Tecnológico; Secretaria da Saúde do Estado do Rio Grande do Sul 506054 lab Ipiranga avenue, 5400, Porto Alegre, Rio Grande do Sul, 90650-001 Brazil 2 Oct 16, 2019 no assertion criteria provided research novel Pathogenic, not provided 0 2 0 0 0 Biochimie - Maladies Neurologiques Hereditaires 506055 lab 59 boulevard Pinel, Bron, 69500 France 10 Sep 04, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 10 0 0 0 0 Laboratory of Genetic Skeletal Anomaly; Seoul National University Children's Hospital 506056 lab 101 Daehak-ro Jongno-gu, seoul, Seoul-t'ukpyolsi, 03080 South Korea 2 Mar 19, 2019 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement; Assistance Publique Hopitaux de Paris 506058 lab 47-83 Boulevard de l'Hopital, Paris, 75013 France 67 Apr 10, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic 67 0 0 0 0 Division of Rheumatology, Allergy and Immunology; UCSD 506062 lab 9500 Gilman Dr #0732, San Diego, California, 92093 United States 1 Oct 17, 2019 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Labor Lademannbogen MVZ GmbH 506063 lab Hamburg Germany 1 Feb 10, 2017 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Genetic Laboratory; Instituto Nacional de Cancer 506064 resource Andre Calvalcanti, Rio de Janeiro, Rio de Janeiro Brazil 5 Jan 12, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 5 0 0 0 Center for Basic Medical Research; TEDA International Cardiovascular Hospital 506067 lab No.61, the 3rd Ave., TEDA, Tianjin, Tianjin, 300457 China 1 Nov 21, 2017 criteria provided, single submitter case-control, in vitro novel Pathogenic 0 0 0 0 0 Laboratorio de Imunogenetica e Histocompatibilidade; UNIVERSIDADE FEDERAL DO PARANA 506069 lab Av. Coronel Francisco Heraclito dos Santos, 210, Centro politecnico, depto genetica, lab 31, Curitiba, Parana, 81531-980 Brazil 5 Aug 14, 2019 no assertion criteria provided phenotyping only, research novel Pathogenic 0 4 0 0 1 Maesawa Lab; Iwate Medical University 506071 lab Yahaba-cho, Shiwa-gun, Iwate, 028-3694 Japan 1 Feb 03, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Oxford Haemato-Oncology Service; Oxford University Hospitals NHS Foundation Trust 506072 lab Level 4, John Radcliffe Hospital, Headley Way, Oxford, Oxfordshire, OX3 9DU United Kingdom 32 Feb 05, 2018 no assertion criteria provided clinical testing novel and updates Likely pathogenic, drug response 32 0 0 0 0 Leeds Institute of Biomedical and Clinical Sciences; University of Leeds 506074 lab Beckett St, Leeds , West Yorkshire, LS9 7TF United Kingdom 2 Feb 12, 2017 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Muenke lab; National Institutes of Health 506075 lab Bethesda United States 40 Feb 05, 2019 criteria provided, single submitter clinical testing, in vivo, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign 15 24 0 0 0 Caryl and Israel Englander Institute for Precision Medicine; Weill Cornell Medicine 506076 lab 413 East 69th Street, New York, New York, 10021 United States 1 Mar 28, 2017 no assertion criteria provided research novel Uncertain significance 0 1 0 0 0 KK Women’s and Children’s Hospital; KK Women’s and Children’s Hospital 506077 other Singapore Singapore 3 Jul 27, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Department of Genetics; Fundacion Jimenez Diaz University Hospital 506078 lab 11 Jun 07, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 11 0 0 0 Key Laboratory of Endocrinology; Peking Union Medical College Hospital 506079 clinic Shuai Fu Yuan 1#, Beijing, 100730 China 1 Feb 03, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Rady Children's Institute for Genomic Medicine; Rady Children's Hospital San Diego 506081 lab 3020 Childrens Way, San Diego, California, 92123 United States 244 May 20, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 244 0 0 0 0 Human Genetics Institute Leipzig; Universitätsklinikum Leipzig 506086 clinic Leipzig Germany 151 May 12, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 147 4 0 0 0 Center for Medical Genetics and Molecular Medicine; Haukeland University Hospital 506087 lab Bergen, N-5021 Norway 25 Oct 12, 2018 criteria provided, single submitter clinical testing, in vitro, literature only novel Pathogenic, Likely pathogenic, Benign 24 0 1 0 0 Laboratory of Molecular Biology and Genetics; St Antoine Hospital - APHP 506089 lab 184 rue faubourg St Antoine, Paris, 75012 France 2 Jun 09, 2020 no assertion criteria provided case-control, clinical testing novel Pathogenic 1 0 0 0 0 Gansu Province Medical Genetics Center 506091 lab Lanzhou, Gansu China 5 Feb 09, 2017 no assertion criteria provided clinical testing novel Pathogenic 5 0 0 0 0 Nöthen Lab, Institute of Human Genetics; University Hospital Bonn 506094 lab Bonn, 53127 Germany 2 Oct 13, 2017 no assertion criteria provided literature only novel Pathogenic 0 0 2 0 0 Molecular Medicine Center; Medical University of Sofia 506095 lab 2 zdrave str., Sofia, 1431 Bulgaria 4 Jun 20, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 The Morris Kahn Laboratory of Human Genetics; Ben-Gurion University of the Negev 506096 lab Beer-Sheva, HaDarom, 8410501 Israel 4 Jun 27, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 1 3 0 0 0 Cancer Prevention Center, Yonsei Cancer Center; Severance Hospital, Yonsei University College of Medicine 506097 clinic Yonsei-ro 50-1, Yonsei Univ. College of Medicine, Seodaemoongu, Seoul-t'ukpyolsi, 120-752 South Korea 1 Jun 20, 2017 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Phosphorus, Inc. 506098 lab 25 W 26th st., New York, New York, 10001 United States 221 Sep 27, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 221 0 0 0 0 Department of Animal Sciences; Quaid-i-Azam University 506100 lab Faculty of Biological Sciences, Islamabad, 45320 Pakistan 9 Apr 07, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 9 0 0 0 Clinical Genetics Laboratory; Region Ostergotland 506101 lab University Hospital, Linkoping, S-58185 Sweden 2 Jun 18, 2020 criteria provided, single submitter clinical testing novel and updates Likely pathogenic, Uncertain significance 2 0 0 0 0 Akbari laboratory; DeNA Laboratory 506102 lab Jalal Al Ahmad, Tehran, 14115-331 Iran 1 Apr 04, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Mahdieh Medical Diagnostic Center; Falavarjan Branch, Islamic Azad University 506103 lab Ahmad Abad Str., Isfahan, Esfahan, Isfahan Iran 1 Feb 05, 2019 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Division of Host Defense; Kyushu University 506105 lab Fukuoka Japan 7 Sep 14, 2017 no assertion criteria provided reference population novel Uncertain significance, risk factor 0 0 0 0 0 Unit for Genetic & Epidemiological Research on Neurological Disorders; Instituto de Investigação e Inovação em Saúde 506106 lab Rua Alfredo Allen, 208, Porto, Porto, 4200-135 Portugal 70 Mar 10, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 70 0 0 0 Biotechnology Research Center; Pasteur Institute of Iran 506109 lab 12th Farwardin Ave, Tehran, 1316943551 Iran 6 Mar 26, 2018 criteria provided, single submitter case-control, research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility; Centro di Riferimento Oncologico 506110 lab F Gallini, Aviano, 33081 Italy 2 Mar 05, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Eone-Diagnomics Genome Center 506111 lab 291 Harmony, Yeonsu, Incheon, 22014 South Korea 2 Mar 10, 2017 no assertion criteria provided clinical testing novel Uncertain significance 2 0 0 0 0 Sanfordhealth-Fargo; Sanfordhealth 506113 clinic 820 4th Street North, Fargo, North Dakota, 58122 United States 1 Mar 29, 2017 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Embryology Laboratory; Victor Chang Cardiac Research Institute 506115 lab 405 Liverpool St, Darlinghurst , New South Wales, 2010 Australia 16 Mar 06, 2020 criteria provided, single submitter research novel Pathogenic 0 16 0 0 0 Area of Clinical and Molecular Genetics; Hospital Universitario Vall de Hebron 506117 lab Passeig Vall De Hebron 119-129 , Barcelona, 08035 Spain 8 Sep 09, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 8 0 0 0 0 Endocrine oncology group; Uppsala University 506118 other Uppsala, 75237 Sweden 1 Jun 12, 2017 no assertion criteria provided case-control novel Likely pathogenic 0 0 0 0 0 Laboratoire de Biologie et Génétique du Cancer; Centre François Baclesse 506119 lab 3 avenue du Gal Harris, CAEN, 14076 France 8 Apr 04, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 8 0 0 0 0 Applied Translational Genetics Group; The University of Auckland 506120 other 5 Oct 23, 2017 no assertion criteria provided in vitro, research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Kopetz Lab; MD Anderson Cancer Center 506122 lab 1515 Holcombe Blvd, Unit 426, Houston, Texas, 77030 United States 2 Sep 21, 2017 no assertion criteria provided clinical testing, research novel drug response 1 1 0 0 0 FAHD UNIT, Department of Genetics; King Faisal Specialist Hospital and Research Centre 506124 lab Riyadh, 11211 Saudi Arabia 3 Apr 19, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic 1 2 0 0 0 Medical Genetics Laboratory; Aldo Moro University of Bari 506125 lab Piazza Giulio Cesare, Bari, 70124 Italy 1 Oct 13, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 National Reference Laboratory of Biochemistry; Pasteur Institute of Iran 506128 lab Pastor Street- 12 Farvardin Avenue, Tehran, Tehran, 13169-43551 Iran 2 Jun 22, 2017 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Neurogenetics Research Program; University of Adelaide 506129 lab North Terrace, Adelaide, South Australia, 5000 Australia 2 Jun 11, 2019 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Ege University Pediatric Genetics; Ege University 506131 clinic Kazim Dirik, Izmir, 35100 Turkey 59 May 19, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 59 0 0 0 0 Genetic and Metabolic Disease Program, Children's Medical Center Research Institute; UT Southwestern Medical Center at Dallas 506132 lab Dallas, Texas, 75390 United States 2 Aug 16, 2017 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Central Research Laboratory; Sri Devaraj Urs Academy of Higher Education and Research 506133 lab Kolar, Karnataka, 563101 India 14 Mar 22, 2017 no assertion criteria provided clinical testing novel Pathogenic 14 0 0 0 0 Clinical Genetics; Charité Universitaetsmedizin Berlin 506134 clinic Berlin Germany 1 May 22, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Herman Laboratory; Nationwide Children's Hospital 506136 lab Columbus, Ohio, 43205 United States 33 May 24, 2017 criteria provided, single submitter clinical testing novel Pathogenic 33 0 0 0 0 Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center.; Columbia University Medical Center 506137 lab 630 w 168th street, New York, New York, 10032 United States 1 Jul 24, 2017 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Columbia University Medical Center; Columbia University 506140 other 630 West 168th Street, New York City, New York, 10032 United States 4 Oct 28, 2019 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic 2 2 0 0 0 Sandor Lifesciences Pvt Ltd; Sandor Lifesciences Pvt Ltd 506142 lab Banjara Hills Road No 3 , Hyderabad, 500034 India 2 Nov 24, 2017 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Hearing and Balance Clinic; First Affliiated Hospital of Kunming Medical University 506144 clinic Xichang Road 295#, Kunming, Yunnan, 650032 China 6 Apr 21, 2020 no assertion criteria provided clinical testing, research novel Pathogenic 6 2 0 0 0 SIB Swiss Institute of Bioinformatics 506146 other 1, rue Michel Servet, Geneva, 1211 Switzerland 796 Apr 27, 2020 criteria provided, single submitter curation, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 1 795 0 UMR-S1161; Institut national de la santé et de la recherche médicale 506147 lab 10 avenue de Verdun, Paris, 75010 France 23 Mar 27, 2017 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 23 0 0 0 Fundacion Publica Galega de Medicina Xenomica; Servicio Galego de Saude 506148 lab Choupana SN , Santiago de Compostela, Galicia, 15706 Spain 1 May 23, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Biocant - Biotechnology Innovation Center 506149 lab Parque Tecnologico de Cantanhede, Nucleo 04, Lote 08, Cantanhede, 3060-197 Portugal 1 Jul 06, 2017 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Yale Center for Mendelian Genomics; Yale University 506150 lab New Haven, Connecticut United States 216 Apr 02, 2019 no assertion criteria provided literature only novel Pathogenic, Likely pathogenic, Uncertain significance, association, not provided 0 0 216 0 0 Department of Medical Genetics and Molecular Diagnostic Laboratory; Shanghai Children's Medical Center 506151 lab Shanghai China 10 May 20, 2020 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic 5 2 0 0 0 Department of Pathology and Laboratory Medicine; Sinai Health System 506152 lab 600 University Avenue, 6th Floor, Suite 6-500, Toronto, Ontario, M5G 1X5 Canada 1837 Apr 08, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1837 0 0 0 0 Laboratoires de Diagnostic Génétique; Hôpitaux Universitaires de Strasbourg 506153 lab Strasbourg France 3 Nov 25, 2019 no assertion criteria provided clinical testing, research novel and updates Pathogenic, Benign 2 1 0 0 0 Rampazzo Lab, Human Molecular Genetics Unit; University of Padua 506155 lab Via U.Bassi 58/B, Padua, 35121 Italy 4 May 03, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 4 0 0 0 ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel 506161 consortium Bethesda, Maryland, 20892 United States 102 Feb 25, 2019 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 102 0 Caglayan Lab; Istanbul Bilim University 506162 lab Istanbul, 34394 Turkey 1 Jun 07, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Santos-Cortez Lab; University of Colorado School of Medicine 506163 lab 12700 E. 19th Ave., Aurora, Colorado, 80045 United States 27 Aug 06, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 27 0 0 0 RBHT Clinical Genetics and Genomics Laboratory; Royal Brompton and Harefield NHS Foundation Trust 506166 lab Sydney Street, London, London, City of, SW3 6NP United Kingdom 14 Jun 29, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 14 0 0 0 0 Servicio Extremeño de Salud; Hospital de Mérida 506167 lab Avenida Antonio Campos Hoyos, 26, Mérida (Badajoz), Extremadura, 06800 Spain 4 May 27, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 TIDEX; University of British Columbia 506168 clinic 4480 Oak Street, Vancouver, British Columbia, V6H 3VN Canada 50 Jul 19, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 50 0 0 0 Shworak lab; George Washington University 506169 lab 2300 Eye St N.W., Washington, District of Columbia, 20037 United States 1 Apr 13, 2017 criteria provided, single submitter clinical testing, in vitro, in vivo, research novel and updates risk factor 1 1 0 0 0 Medgenome Labs Pvt Ltd 506170 other 3rd Floor, Narayana Netralaya Building, Narayana Health City, # 258/A, Bangalore, Karnataka, 560099 India 3 May 29, 2019 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 3 0 0 0 Wangler Lab; Baylor College of Medicine 506171 lab 1250 Moursund Avenue; Suite NR1050, Houston , Texas, 77030 United States 6 Nov 01, 2019 criteria provided, single submitter case-control, clinical testing, in vitro, in vivo novel and updates Pathogenic, Uncertain significance 1 0 0 0 0 Laboratoire de Génétique Moléculaire; CHU Bordeaux 506172 lab Place Amélie Raba Léon, Bordeaux, Aquitaine, 33076 France 13 Mar 18, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 13 0 0 0 0 Institute of Medical Genetics; University of Zurich 506173 other Wagistrasse 12, CH-8952 Schlieren, Schwerzenbach, Zurich, 8603 Switzerland 14 Jun 15, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 14 0 0 0 0 Geisinger Autism and Developmental Medicine Institute; Geisinger Health System 506174 clinic 120 Hamm Drive, Ste 2A, Lewisburg, Pennsylvania, 17837 United States 303 Apr 18, 2018 criteria provided, single submitter clinical testing, provider interpretation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 148 0 0 0 0 Department of Pediatrics; Memorial Sloan Kettering Cancer Center 506177 clinic 5 Jul 02, 2018 criteria provided, single submitter clinical testing novel Pathogenic 5 0 0 0 0 Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development; UConn Health Center 506178 lab 2 Jun 22, 2017 no assertion criteria provided research novel Pathogenic, Benign 0 2 0 0 0 Fundacion Hipercolesterolemia Familiar 506180 other General Alvarez de Castro, 14 - 1 E, Madrid, 28010 Spain 334 Apr 20, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 334 0 0 0 Laboratório Bases Genéticas das Doenças Endocrinológicas, Faculdade de Medicina de Botucatu; Universidade Estadual Paulista 506181 lab Av. Prof. Montenegro, s.n., Botucatu, Sao Paulo, 18618-970 Brazil 1 Jun 26, 2017 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Cancer Genetics and Genomics Laboratory; British Columbia Cancer Agency 506183 lab 600 West 10th Avenue, Vancouver, British Columbia, V5Z 4E6 Canada 139 Aug 04, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance, Likely benign, Benign 139 0 0 0 0 Department of Laboratory Medicine and Genetics 506184 lab 2200 Eglinton Avenue West, Mississauga, Ontario, L5M 2N1 Canada 40 Dec 08, 2014 no assertion criteria provided clinical testing, curation novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 10 0 0 30 0 GenomeConnect; Clinical Genome Resource 506185 other Lewisburg, Pennsylvania, 17837 United States 1102 Apr 21, 2020 no assertion provided phenotyping only novel and updates not provided 0 0 0 0 1102 Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde; Academisch Medisch Centrum 506186 lab Meibergdreef 9, Amsterdam, Noord-Holland, 1105AZ Netherlands 780 Apr 25, 2017 no assertion criteria provided research novel Pathogenic, Uncertain significance, Likely benign, Benign 0 780 0 0 0 Laboratory of Jean-Laurent Casanova; The Rockefeller University 506187 lab 1230 York Ave, New York, New York, 10065 United States 2 Apr 25, 2017 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Department of Pathology and Molecular Medicine; Queen's University 506188 lab 88 Stuart Street, Kingston, Ontario, K7L 3N6 Canada 110 Aug 04, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 110 0 0 0 0 Iberoamerican FH Network 506189 consortium Madrid, 28010 Spain 144 Jul 28, 2017 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 144 0 0 0 Section on Medical Neuroendocrinolgy; National Institutes of Health 506190 lab 10 Center Drive, BLDG 10CRC, Rm 1-3140, Bethesda, Maryland, 20892 United States 80 Jul 10, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 80 0 0 0 Molecular Medicine Research Center; University of Cyprus 506193 other Nicosia Cyprus 2 Jun 30, 2017 no assertion criteria provided phenotyping only novel Pathogenic, Likely pathogenic 0 0 0 0 2 Department of Medical Sciences; Uppsala University 506194 lab Uppsala, 75185 Sweden 102 Apr 22, 2017 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 102 0 0 0 0 Molecular Oncology Laboratory; Hospital Clínico San Carlos 506195 lab c/Profesor Martín Lagos s/n, Madrid, Madrid, 28040 Spain 22 Oct 17, 2018 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 21 1 0 0 0 Department of Obstetrics and Gynecology; Helsinki University Hospital 506196 lab 1 May 02, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Department of Laboratory Medicine; Daejeon St. Mary’s Hospital 506198 lab Daejeon South Korea 1 Jun 18, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Division of Genomics; Kyushu University 506199 lab Fukuoka Japan 1 Feb 01, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 CHLA Center for Personalized Medicine; Children's Hospital, Los Angeles 506200 lab 4650 Sunset Blvd.m, Los Angeles, California, 90027 United States 151 Dec 20, 2018 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 151 0 0 0 0 Limoges University Hospital Laboratory; Limoges University Hospital 506201 lab 8, avenue Dominique Larrey, Limoges, Limousin, 87000 France 1 May 31, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Rare Disease Group, Clinical Genetics; Karolinska Institutet 506202 lab CMM L8:02, Stockholm, Stockholms Lan, 17176 Sweden 213 Jul 25, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 132 81 0 0 0 AlTemaimi Lab, Faculty of Medicine; Kuwait University 506203 lab Fourth ring road, Opposite Mubarak Hospital, Jabriya, 13110 Kuwait 1 Feb 20, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Zheng Lab; Zhongnan Hospital of Wuhan University 506204 lab Donghu Road 169#, Wuhan , Hubei, 430071 China 1 Jun 08, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Yang An-Suei Laboratory; Academia Sinica 506205 lab Taipei Taiwan 22 Jul 06, 2017 criteria provided, single submitter clinical testing, research novel Pathogenic 21 1 0 0 0 Noncommunicable Diseases Research Center; Fasa University of Medical Sciences 506206 other Ebne-sina sq, Fasa, Fars, 7461686688 Iran 2 Jan 25, 2018 no assertion criteria provided clinical testing, research novel Pathogenic 1 1 0 0 0 Laboratoire de Genetique Biologique; CHU de Poitiers 506207 lab 2, rue de la Miletrie, CS 90577, POITIERS, 86021 France 11 Aug 06, 2019 criteria provided, single submitter clinical testing, in vitro novel Pathogenic, Likely pathogenic 7 0 0 0 0 Noruzinia Laboratory; DeNA Laboratory 506208 lab Jalal Al Ahmad, Tehran, Tehran, 14115-331 Iran 2 Sep 06, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Medical & Molecular Genetics Group; University of Lincoln 506209 lab 448 Aug 25, 2015 no assertion criteria provided literature only novel and updates Pathogenic, Uncertain significance 0 0 448 0 0 Immunogenetics Laboratory; Johns Hopkins All Children's Hospital 506210 lab 501 Sixth Avenue South, St. Petersburg, Florida, 33701 United States 5 Jan 09, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 5 0 0 0 0 Snyder Lab, Genetics Department; Stanford University 506211 lab 3165 Porter Dr, Palo Alto, California, 94304 United States 14 Oct 29, 2018 criteria provided, single submitter case-control, clinical testing, research novel Pathogenic, Likely pathogenic, risk factor 1 12 0 0 0 SIB Swiss Institute of Bioinformatics; Copenhagen University 506212 consortium Blegdamsvej 3B, Copenhagen, 2200 Denmark 29 Oct 12, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 29 0 0 0 Lars Feuk Lab; Uppsala University 506215 lab Husargatan 3, Uppsala, 751 08 Sweden 5 Dec 21, 2018 no assertion criteria provided research novel and updates Uncertain significance 0 5 0 0 0 Barrett Group; Wellcome Trust Sanger Institute 506216 lab Wellcome Trust Genome Campus, Hinxton, CB10 1SA United Kingdom 1 Jun 06, 2017 criteria provided, single submitter clinical testing, in vitro, in vivo novel Likely pathogenic 1 0 0 0 0 Dept of Molecular Biology and Genetics; Bogazici University 506217 other Istanbul, 34342 Turkey 3 Nov 21, 2017 no assertion criteria provided research novel Pathogenic, Likely benign 0 3 0 0 0 Institute of Human Genetics Greifswald, Research Division; University Medicine Greifswald 506218 lab Fleischmannstr 43, Greifswald, 17475 Germany 24 May 03, 2018 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic, not provided 2 20 0 0 0 The Translational Medicine Center of Children Development and Disease; Fudan University 506219 clinic No.399 Wanyuan Road, Shanghai, 201102 China 4 Mar 04, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 4 0 0 0 0 Flegel Lab; National Institutes of Health 506220 lab 9000 Rockville Pike, Bethesda, Maryland United States 3 May 31, 2017 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Kariminejad - Najmabadi Pathology & Genetics Center 506221 lab #2, Fourth St, Hassan Seyf Ave. Sanat Sq. Shahrak Gharb, Tehran, 14667-13713 Iran 100 Mar 09, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 100 0 0 0 0 Department of Immunology; University Hospital Southampton NHSFT 506222 clinic Southampton United Kingdom 9 Jul 26, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 9 0 0 0 0 Fundació de Recerca de l'Institut de Microcirurgia Ocular 506223 other C/ Josep Mª Lladó, 3, Barcelona, Catalonia, 08035 Spain 3 Jun 06, 2017 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Genetics Department; University Hospital of Toulouse 506224 lab Hopital Purpan, Toulouse, 31093 France 27 Oct 29, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 19 8 0 0 0 Rizzo Lab; University of Nebraska Medical Center 506225 lab 985456 Nebraska Medical Center, Omaha, Nebraska, 68198 United States 5 Jun 30, 2017 criteria provided, single submitter in vitro, research novel Pathogenic 0 5 0 0 0 Genetics of Cognitive Dysfunction Laboratory; I3S-IBMC, University of Porto 506228 lab Rua Alfredo Allen, 208, Porto, Porto, 4200-135 Portugal 1 Jun 10, 2017 criteria provided, single submitter research novel and updates Pathogenic 0 1 0 0 0 Genomics Laboratory; Virgen de la Arrixaca University Clinical Hospital 506231 lab Ctra Madrid-Cartagena, s/n, Murcia, Murcia, 30120 Spain 6 May 27, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 6 0 0 0 0 Sharon lab; Hadassah-Hebrew University Medical Center 506232 lab POB 12000, Jerusalem, 91120 Israel 565 Jun 25, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 565 0 0 0 Tolun Lab, Human Genetics Laboratory; Bogazici University 506233 lab Nispetiye cad. North campus Kpark building Lab:201, Istanbul, 34342 Turkey 12 Jun 10, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 1 11 0 0 0 Institute of Reproductive and Stem Cell Engineering; Central South University 506234 lab Changsha China 16 Jun 12, 2020 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic, Likely pathogenic, Uncertain significance 2 14 0 0 0 Obstetrics and Gynaecology Department; Chinese University of Hong Kong 506235 clinic Hong Kong United States 3 Sep 29, 2017 no assertion criteria provided case-control novel association 0 0 0 0 0 Molecular Laboratory of the Institute of Human Genetics; Galilee Medical Center 506237 lab Naharia, 22100 Israel 1 Jun 16, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Zhou Lab, Center of Laboratory Medicine; Fuwai Hospital 506238 lab 167 Bei Lishi Road, Xicheng District, Beijing, 100037 China 5 Aug 28, 2018 criteria provided, single submitter research novel Pathogenic 0 5 0 0 0 School of Basic Medicine; Fourth Military Medical University 506240 other Changle West Rd. 17#, Xi'an, Shaanxi, 710032 China 1 Sep 20, 2017 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Antonellis Laboratory at Michigan; University of Michigan 506243 lab 1241 E. Catherine St., 3710 Med Sci II, Ann Arbor, Michigan, 48109 United States 7 Jan 05, 2018 no assertion criteria provided clinical testing, in vitro, research novel Pathogenic, Likely pathogenic, Uncertain significance 2 2 0 0 0 Gujarat Genomics Initiative; Gujarat State Biotechnology Mission 506244 other Block 11, 9th floor, GH Rd, Sector 11, Gandhinagar, Gujarat, 382010 India 1 Jun 30, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Human Molecular Genetics and Metabolic Disorders; Pakistan Institute for Engineering and Applied Science (PIEAS) 506245 lab Faisalabad , 38000 Pakistan 7 May 22, 2018 no assertion criteria provided research novel Pathogenic 0 7 0 0 0 Research Molecular Genetics Laboratory; Women's College Hospital, University of Toronto 506247 lab 76 Grenville Street, Room E1-10, Toronto, Ontario, M5S 1B2 Canada 1023 Aug 04, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign, not provided 0 1023 0 0 0 Mitochondrial Research Group; Murdoch Children's Research Institute 506250 lab Melbourne, Victoria Australia 2 Feb 21, 2019 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 2 0 0 0 Unit of Genetics and Genomics of Neuromuscular Diseases; Principe Felipe Research Center 506251 lab C/ Eduardo Primo Yúfera 3, Valencia, Comunidad Valenciana, 46012 Spain 3 Dec 14, 2018 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Biologia e Medicina Molecolare; Sapienza University of Rome 506252 other Piazzale Aldo Moro 5, 00185 Roma, Rome, Lazio, 00185 Italy 5 Apr 17, 2020 criteria provided, single submitter case-control, clinical testing, research novel and updates Pathogenic 1 2 0 0 0 Genetics of Mitochondrial Diseases; Imagine Institute 506254 lab 24 bd de Montparnasse, Paris, Ile-de-France, 75015 France 2 Sep 06, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 2 0 0 0 Institute of Endocrinology, Diabetes & Metabolism; Max Healthcare Institute Ltd. 506256 other 2, Press Enclave Road, Saket, New Delhi, Delhi, 110017 India 3 Jan 12, 2019 criteria provided, single submitter research novel Likely pathogenic, Uncertain significance 0 3 0 0 0 Human Molecular Genetics Laboratory; Federal University of Parana 506257 lab Av. Coronel Francisco Heráclito dos Santos, 210 - Jardim das Americas, Curitiba, Parana, 81530-900 Brazil 1 Aug 24, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Murat Gunel Laboratory; Yale University 506258 lab 300 Cedar Street TAC S330, New Haven, Connecticut, 06520-8082 United States 1 Jun 17, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Laboratorio de Citogenómica y Microarreglos; Universidad Autonoma de Nuevo Leon 506259 lab Av. Fco. I. Madero s/n, esq. E. Aguirre Pequeño, Monterrey, Nuevo Leon, 64460 Mexico 6 Jul 18, 2018 criteria provided, single submitter research novel Likely pathogenic, Likely benign 0 6 0 0 0 Center for Medical Genetics; Keio University School of Medicine 506260 lab 35 Shinanomachi, Shinjuku-ku, Tokyo, 1608582 Japan 2 Aug 03, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 2 0 0 0 Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla"; Administración Nacional de Laboratorios e Institutos de Salud 506261 lab Av. Las Heras 2670, 3er piso, Ciudad Autonoma de Buenos Aires, Distrito Federal, 1425 Argentina 28 Jun 17, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, risk factor 28 0 0 0 0 Cirak Lab; University Hospital Cologne 506263 lab Robert-Koch-Str.21, Cologne, 50937 Germany 84 Apr 09, 2020 criteria provided, single submitter clinical testing, in vivo, research novel Pathogenic, Likely pathogenic, Uncertain significance 2 81 0 0 0 Leiden Open Variation Database 506264 other Leiden, Zuid-Holland, 2333 ZC Netherlands 576 Feb 28, 2020 no assertion criteria provided curation novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 576 0 Pele Pequeno Principe Research Institute; Faculdades Pequeno Principe 506265 lab Avenida Silva Jardim, 1632, Curitiba, 80250200 Brazil 8 Dec 20, 2019 criteria provided, single submitter research novel Pathogenic 0 8 0 0 0 Pediatric Nephrology (Iijima Lab); Kobe University Graduate School of Medicine 506266 lab 7-5-1 Kusunokicho Chuouku, Kobe, 6500017 Japan 2 Jul 28, 2017 no assertion criteria provided clinical testing novel Pathogenic, Benign 2 0 0 0 0 Department of Traditional Chinese Medicine; Fujian Provincial Hospital 506270 clinic No.134 Dongjie, Fuzhou, 350001 China 1 Oct 10, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Neurometabolisches Labor; University hospital Tuebingen 506271 lab Tuebingen Germany 8 Aug 03, 2017 criteria provided, single submitter research novel Pathogenic, Benign 0 8 0 0 0 Molecular ImmunoRheumatology UMRS_1109; Institut national de la santé et de la recherche médicale 506272 lab Strasbourg France 3 Jul 19, 2017 no assertion criteria provided clinical testing, research novel Pathogenic 1 2 0 0 0 True Health Diagnostics 506273 lab Richmond United States 589 Nov 27, 2018 no assertion criteria provided clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 589 0 0 0 0 Centre for Arab Genomic Studies; Sheikh Hamdan Award for Medical Sciences 506275 lab Mankhool Rd., Dubai, P.O.Box 22252 United Arab Emirates 14 Nov 07, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance 14 0 0 0 0 Laboratory of Medical Genetics Unit; Bambino Gesù Children's Hospital 506277 lab Rome Italy 2 Jul 23, 2019 no assertion criteria provided case-control, clinical testing novel Likely pathogenic 1 0 0 0 0 Genetics Laboratory; Facudade de Medicina de Sao Jose do Rio Preto 506279 lab Av. Jamil Feres Kfouri, 80, Sao José do Rio Preto, Sao Paulo, 15091-240 Brazil 11 Aug 29, 2017 no assertion criteria provided research novel Uncertain significance 0 11 0 0 0 Human Genomics Unit; Institute for Molecular Medicine Finland (FIMM) 506280 lab Tukholmankatu 8, Biomedicum 2U, Helsinki, Southern Finland, 00290 Finland 24 Aug 23, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 24 0 0 0 Division of Hearing and Balance Research; National Hospital Organization Tokyo Medical Center 506281 lab 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902 Japan 40 Mar 24, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 40 0 0 0 0 Hemoglobin and Genome Lab; University of Campinas 506285 lab Rua Carlos Chagas 480, Campinas, Sao Paulo, 13083878 Brazil 2 Jul 28, 2017 criteria provided, single submitter research novel Likely pathogenic 0 2 0 0 0 Cormier-Daire Lab; IMAGINE 506286 lab 24 Bd du Montparnasse, Paris, Ile-de-France, 75015 France 4 Jun 14, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 3 0 0 0 Zi-Jiang Chen Lab; Shandong University 506287 lab 157 Jingliu Road, Jinan, Shandong, 250021 China 1 Sep 07, 2017 no assertion criteria provided phenotyping only, research novel Pathogenic 0 1 0 0 1 New Leaf Center 506289 clinic PO Box 336, 15988B East Chestnut St, PO Box 336, Mount Eaton, Ohio, 44659-0336 United States 11 Jun 17, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 9 2 0 0 0 SBielas Lab, Department of Human Genetics; University of Michigan 506290 lab Ann Arbor United States 28 Mar 05, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 3 25 0 0 0 Lab Thiel (Congenital Disorders of Glycosylation); Center for Child and Adolescent Medicine 506293 lab Im Neuenheimer Feld 669, Heidelberg, Baden-Wurttemberg, 69121 Germany 10 Mar 09, 2020 criteria provided, single submitter in vitro, phenotyping only, research novel Pathogenic 0 9 0 0 1 StellarGene Technologies Pvt. Ltd. 506294 lab PUSA, New Delhi, Delhi, 110012 India 1 Sep 15, 2017 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Genetic Research; Kawsar Human Genetics Research Center 506295 lab No. 41 Majlesi St., ValiAsr St., Tehran, 1595645513 Iran 1 Aug 01, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Cincinnati Center for Growth Disorders; Cincinnati Children's Hospital Medical Center 506296 lab 3333 Burnet Ave, Cincinnati, Ohio, 45229 United States 2 Aug 14, 2017 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Bioinformatics Core; Luxembourg Center for Systems Biomedicine 506297 lab Belval, Esch-sur-Alzette Luxembourg 111 Aug 09, 2017 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Dr. Liu's Molecular Genetics Laboratory; University of Miami Miller School of Medicine 506300 lab 1601 NW 12th Ave Room 6023, Mailman Center, Miami, Florida, 33136 United States 1 Aug 16, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Laboratoire de cytogenetique; Hopital Necker-Enfants Malades 506301 lab 149 rue de Sèvres, Paris, Ile-de-France, 75015 France 2 Aug 11, 2017 no assertion criteria provided research novel Likely pathogenic 0 2 0 0 0 Wong Mito Lab, Molecular and Human Genetics; Baylor College of Medicine 506302 lab One Baylor Plaza, Room R830, Houston, Texas, 77030 United States 3203 Mar 15, 2020 criteria provided, single submitter clinical testing, reference population novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 2869 0 0 0 0 Hardcastle Lab; UCL Institute of Ophthalmology 506306 lab 11-43 Bath Street, London, EC1V 9EL United Kingdom 7 Feb 06, 2018 no assertion criteria provided research novel Likely pathogenic 0 7 0 0 0 Academic Center for Education, Culture and Research; Motamed Cancer Institute 506307 lab No 146, South Gandi ave, Vanak sq,, Tehran, Tehran, 4311796151 Iran 13 May 26, 2019 criteria provided, single submitter case-control, clinical testing, research novel Pathogenic 10 1 0 0 0 Anoual Laboratory of Radio-Immuno Analysis 506311 lab Angle Blvd Alexandrie and Blvd Anoual , Casablanca, 20360 Morocco 1 Sep 05, 2017 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Dr Meenakshi Bhat Group; Centre for Human Genetics 506312 lab Biotech Park, Electronic City Phase 1, Bangalore, Karnataka, 560100 India 2 Jan 07, 2019 criteria provided, single submitter clinical testing, research novel Likely pathogenic, Uncertain significance 1 1 0 0 0 Laboratory of Molecular Pathology; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 506313 lab via Sforza 35, Milano, 20122 Italy 1 Sep 05, 2017 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Molecular Genetics Laboratory; State University of Campinas 506314 lab Tessalia Vieira de Camargo, 126, Campinas, Sao Paulo, 13083887 Brazil 1 Aug 31, 2017 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Department of Hematology - Research Laboratory 1; Postgraduate Institute of Medical Education and Research 506315 other Research Block A, Chandigarh, Chandigarh, 160012 India 4 Jul 03, 2018 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 4 0 0 0 David Buchner Laboratory; Case Western Reserve University 506316 lab 10900 Euclid Ave, Cleveland, Ohio, 44106 United States 1 Oct 16, 2017 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Mark LeDoux Lab; University of Tennessee Health Science Center 506317 lab 855 Monroe Avenue, Suite 415 Link Bldg, Memphis, Tennessee, 38163 United States 1 Sep 05, 2017 criteria provided, single submitter clinical testing, in vitro novel Pathogenic 1 0 0 0 0 Dan Cohn Lab; University of California Los Angeles 506318 lab Los Angeles United States 232 Sep 01, 2017 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 232 0 0 0 MAGI'S LAB - Medical Genetics Laboratory; MAGI GROUP 506319 lab Via delle Maioliche 57/D, Rovereto, 38068 Italy 26 Dec 14, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 26 0 0 0 0 Emory University School of Medicine, Department of Human Genetics; Emory University 506321 lab 615 Michael Street NE, Whitehead Building Level 3, Suite 301, Atlanta, Georgia, 30322 United States 1 Sep 14, 2017 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Istenhegyi Gendiagnosztika Kft 506323 lab Zalatnai u. 2. , Budapest Hungary 1 Sep 12, 2017 criteria provided, single submitter provider interpretation novel Likely pathogenic 0 0 0 0 0 Genetics and Molecular Pathology Laboratory; Hudson Institute of Medical Research 506324 lab 27 Wright St, Clayton, Victoria, 3168 Australia 3 Sep 12, 2017 no assertion criteria provided research novel Uncertain significance 0 3 0 0 0 Xenon Pharmaceuticals, Inc. 506325 other Burnaby, British Columbia Canada 3 Nov 07, 2017 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 National Molecular Genetics Centre of Cancer Research; N.N. Alexandrov National Cancer Centre of Belarus 506329 lab Lesnoy, 223040 Belarus 4 Jul 02, 2018 criteria provided, single submitter clinical testing novel Pathogenic 4 0 0 0 0 Pediatrie Multidisciplinaire; Assitance Publique des Hopitaux de Marseille 506330 clinic 265 rue Saint Pierre, Marseille, 13005 United States 1 Sep 19, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Clinical genetics; CHU Grenoble-Alpes 506333 lab Grenoble France 2 Sep 18, 2017 no assertion criteria provided clinical testing novel and updates Pathogenic 2 0 0 0 0 Clinical Genetics Group; University of Otago 506341 lab 58 Hanover St, Hercus Building, Dunedin, Otago, 9054 New Zealand 12 Jul 28, 2018 criteria provided, single submitter clinical testing, research novel Pathogenic, Uncertain significance 7 5 0 0 0 Bodamer Research Lab; Boston Children's Hospital 506342 other 3 Blackfan Circle, CLSB 15, Boston, Massachusetts, 02115 United States 2 Oct 03, 2017 no assertion criteria provided clinical testing novel Uncertain significance 2 0 0 0 0 Institute for Genomic Medicine; Nationwide Children's Hospital 506343 lab 700 Children's Drive, RBIII, Columbus, Ohio, 43205 United States 12 Feb 21, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 2 10 0 0 0 Center for Genomics; Ann and Robert H. Lurie Children's Hospital of Chicago 506344 lab 225 E. Chicago Avenue Box 82, Chicago, Illinois, 60611 United States 751 Mar 06, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 751 0 0 0 0 Hunan Clinical Research Center of Ophthalmic Disease; The Second Xiangya Hospital 506345 clinic 139 Renmin Middle Road, Changsha, Hunan, 410000 China 2 Dec 04, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Center of Vascular Surgery; The Second Affiliated Hospital of Nanchang University 506347 clinic Minde Road, Nanchang, Jiangxi, 330000 China 3 Jul 30, 2018 no assertion criteria provided clinical testing novel Likely pathogenic, risk factor 3 0 0 0 0 Ute Scholl Laboratory; Heinrich Heine University Duesseldorf 506349 lab Moorenstrasse 5, Duesseldorf, Nordrhein-Westfalen, 40225 Germany 5 Oct 10, 2017 no assertion criteria provided in vitro, research novel Pathogenic 0 5 0 0 0 Medical Institute of Bioregulation; Kyushu University 506350 lab 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, JAPAN, Fukuoka, Fukuoka, 812-8582 Japan 4 Oct 15, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Benign 3 1 0 0 0 Tianjin Pediatric Research Institute; Tianjin Children's Hospital 506352 lab 238#,Longyan Road, Beichen District, Tianjin, 300134 China 2 Jun 05, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Computational Biology Unit; University of Bari 506353 lab Via Orabona 4, Bari, Puglia, 70125 Italy 4 Jan 29, 2019 criteria provided, single submitter in vitro, research novel Likely pathogenic 0 4 0 0 0 Clinical laboratory, Wuhan Children’s Hospital; Tongji Medical College, Huazhong University of Science and Technology 506356 clinic Wuhan, Hubei, 430016 China 2 Oct 06, 2017 no assertion criteria provided clinical testing, in vitro novel Likely pathogenic 2 0 0 0 0 Department of Pediatrics; Uniklinik RWTH Aachen 506358 clinic Pauwelsstrasse 30, Aachen, Nordrhein-Westfalen, 52074 Germany 1 Oct 10, 2017 no assertion criteria provided phenotyping only novel Pathogenic 0 0 0 0 1 Department of Laboratory Medicine, Kangbuk Samsung Hospital; Sungkyunkwan University School of Medicine 506359 lab 29, Saemunan-ro, Jongno-gu, Seoul-t'ukpyolsi, 03181 South Korea 1 Oct 10, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Institutes of Biomedical Sciences; Shanxi University 506361 lab Taiyuan, 030006 China 2 Mar 25, 2020 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 SickKids Clinical Genetics Group; The Hospital for Sick Children 506362 clinic 525 University Avenue, 9th floor, Toronto, Ontario, M5G 1X8 Canada 5 Oct 04, 2018 no assertion criteria provided clinical testing, literature only, provider interpretation novel association, not provided 2 0 1 0 0 GeniaGeo; Laboratorio Genia 506365 lab km 17.5 Ruta 8 Zonamerica, Montevideo, Montevideo, 91600 Uruguay 17 Oct 30, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 17 0 0 0 0 Fukami Lab, Dept of Molecular Endocrinology; National Research Institute for Child Health and Development 506366 lab 2-10-1 Okura, Setagaya, Tokyo, 157-8535 Japan 1 Oct 07, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Dpt. of Clinical Genetics, Molecular Genetics Lab 4062; University Hospital of Copenhagen, Rigshospitalet 506367 lab Blegdamsvej 9, Copenhagen, DK-2100 Denmark 1 Oct 16, 2017 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 The Spine Surgery of The First Affiliated Hospital; Sun Yat-sen University 506368 clinic Guangzhou, Guangdong China 1 Oct 26, 2017 no assertion criteria provided clinical testing novel risk factor 1 0 0 0 0 Cancer Biology Lab; VIT University 506369 lab katpadi, vellore, Tamil Nadu, 632014 India 1 Oct 18, 2017 no assertion provided research novel not provided 0 1 0 0 0 Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch; National Institutes of Health 506370 lab 445 N 5th Street, Phoenix, Arizona, 85004 United States 45 Oct 27, 2017 no assertion criteria provided case-control novel Benign, risk factor 0 0 0 0 0 Edmonton Ocular Genetics; Alberta Health Services 506371 lab 10240 Kingsway Av. , Edmonton, Alberta, T5H3V9 Canada 1 Oct 24, 2017 no assertion criteria provided provider interpretation novel Pathogenic 0 0 0 0 0 Yong Feng Lab; Central South University 506372 lab 110 XiangYa Road, Changsha, Hunan, 410008 China 2 Apr 09, 2018 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Laboratory for Animal Genetics; Ghent University 506374 lab 1 May 20, 2015 criteria provided, single submitter in vivo novel Pathogenic 0 0 0 0 0 Translational Research Program on Neuronal Ceroid Lipofuscinosis; Center for the Study of Inborn Errors of Metabolism 506376 lab Ferroviarios 1250, Cordoba, Cordoba, 5014 Argentina 10 Jul 01, 2018 criteria provided, single submitter research novel Pathogenic, Benign 0 10 0 0 0 Department Of Genetics; Lifeline Super Speciality Hospital, Adoor. 506377 lab Meloodu PO,, ADOOR, Kerala, 691523 India 4 Jan 25, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Uncertain significance 4 0 0 0 0 Unidade de Bioquimica Genetica; Centro Hospitalar do Porto 506378 lab Praca de Pedro Nunes 88, Porto, Porto, 4050-466 Portugal 3 Oct 09, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Department of Human Genetics; University Hospital Magdeburg 506381 lab Leipziger Strasse 44, Magdeburg, 39120 Germany 19 Jan 07, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 11 8 0 0 0 Diagnostic Laboratory, Department of Genetics; University Medical Center Groningen 506382 lab Groningen Netherlands 1898 Apr 04, 2018 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1897 1 0 0 0 Institute of Medical Genetics and Applied Genomics; University Hospital Tübingen 506385 lab Calwerstr. 6, Tübingen, Baden-Wurttemberg, 72076 Germany 3 Mar 06, 2020 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Laboratory for Cytogenetics and Genome Research; KU Leuven 506392 lab Herestraat 49, Leuven, B-3000 Belgium 4 Nov 15, 2017 criteria provided, single submitter research novel Pathogenic 0 4 0 0 0 Molecular Medicine; University of Leeds 506394 lab Leeds, West Yorkshire United Kingdom 25 Apr 28, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 3 22 0 0 0 Genetics Division; UCSD 506396 lab Rua Botucatu 740, Sao Paulo, Sao Paulo, 04023900 Brazil 10 May 04, 2018 no assertion criteria provided literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 8 2 0 0 Research Laboratory, University Department of Zoology; Vinoba Bhave University 506400 lab PR-Road, Hazaribag, Jharkhand, 825301 India 1 Mar 19, 2018 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Histocompatability and Immunogenetics; National Health Service Blood and Transplant 506401 lab 500 Northway, Bristol, BS34 7QH United Kingdom 1 Nov 29, 2017 criteria provided, single submitter clinical testing novel association 1 0 0 0 0 Caldovic Lab; Children's National Health System 506404 lab Washington, District of Columbia, 20010 United States 6 Jan 05, 2018 no assertion criteria provided research novel Likely pathogenic 0 6 0 0 0 Lilac Insights Pvt. Ltd. 506405 lab Navi Mumbai, Maharashtra India 2 Nov 17, 2017 criteria provided, single submitter clinical testing novel Uncertain significance 2 0 0 0 0 National AIDS Research Institute; National AIDS Research Institute 506406 lab 73, ‘G’-Block, MIDC, Bhosari, Pune, Maharashtra, 411 026 India 1 May 13, 2018 no assertion criteria provided research novel association 0 1 0 0 0 Working Group: Pediatric metabolic liver diseases; University Hospital Heidelberg 506407 clinic Heidelberg Germany 7 Jan 16, 2019 no assertion criteria provided research novel Pathogenic 0 7 0 0 0 Laboratory of Diagnosis and Therapy of Lysosomal Disorders; University of Padova 506414 lab via Giustiniani, 3, Padova, Veneto, 35128 Italy 245 Apr 18, 2019 criteria provided, single submitter curation, literature only novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 43 202 0 Medical Genetics Center; Academic Academic Center for Education, Culture and Research (ACECR), Khorasan Razavi 506416 lab Razi Gharbi, Mashhad, Khorasan-e Razavi, 9137844938 Iran 1 Dec 06, 2017 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Jacobi Internal Medicine Residency Program; Jacobi Medical Center 506417 lab 1400 Pelham Pkwy S, New York, 10461 United States 1 Dec 14, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Degerman lab; Umeå University 506418 lab Building 6M, Umeå, 901 85 Sweden 11 Nov 24, 2017 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 11 0 0 0 0 Pediatric Metabolic Diseases; Hacettepe University 506421 clinic Sihhiye, Ankara Turkey 10 Oct 27, 2019 criteria provided, single submitter case-control, clinical testing novel Pathogenic, Likely pathogenic 9 0 0 0 0 Ambulatório de Genética Médica; Hospital Escola da Universidade Federal de Pelotas 506422 other Rua Duque de Caxias, 250, Pelotas, Rio Grande do Sul Brazil 1 Mar 05, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Endocrinology; Sir Run Run Shaw Hospital 506423 clinic East Qingchun Road No.3, Hangzhou China 2 Dec 09, 2017 criteria provided, single submitter clinical testing novel Likely pathogenic 2 0 0 0 0 Medical Genetics Clinic; Mersin Women and Children Hospital 506428 clinic Halkkent Mh. Fatih Sultan Mehmet Blv. No:23, Mersin, Icel, 33240 Turkey 2 Jan 08, 2019 criteria provided, single submitter clinical testing, provider interpretation novel Likely pathogenic 1 0 0 0 0 Tartaglia Lab, Genetics and Rare Diseases Research Division; Bambino Gesu' Children's Hospital 506429 lab Rome Italy 34 Jun 21, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 34 0 0 0 Omics Laboratory; Stanford University 506433 lab 1651 Page Mill Road, Palo Alto, California, 94304 United States 1 Dec 06, 2017 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25; Universidade de Sao Paulo (USP) 506435 lab Av. Dr. Arnaldo, 455, Sao Paulo, Sao Paulo, 01246-903 Brazil 2 Feb 12, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 2 0 0 0 0 Beijing Key Laboratory for Genetic Research of Skeletal Deformity; Peking Union Medical College Hospital 506437 lab beijing, Beijing, 100730 China 37 Apr 16, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 12 25 0 0 0 Clinical Genetics Department; Hospital Sant Joan de Deu 506438 clinic Passeig de Sant Joan de Déu, 2, Esplugues de Llobregat, Catalonia, 08950 Spain 1 Dec 06, 2017 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 ClinGen RASopathy Variant Curation Expert Panel 506439 consortium Bethesda, Maryland, 20892 United States 302 Apr 09, 2020 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 302 0 Inherited Neuropathy Consortium 506440 LSDB Miami, Florida United States 1381 Jul 12, 2019 no assertion criteria provided literature only, provider interpretation, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 13 1324 0 0 The Genetic Institute, Ha'emek Medical center; Ha'emek Medical Center 506441 lab Yitshak Rabin Boulevard 21, Afula, 1834111 Israel 3 Apr 24, 2020 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Molecular Diagnostics Laboratory; Nadiya Clinic of Reproductive Medicine 506442 lab 19-A M. Kryvonosa, Kyiv, 03037 Ukraine 2 Apr 25, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Children's Hospital of Soochow University; Soochow University 506444 clinic Zhongnan, Suzhou, Jiangsu, 215000 China 5 Oct 23, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 5 0 0 0 0 Division of Drug Research; Linkoping University 506447 lab Faculty of Health Sciences, Linköping, 58183 Sweden 4 Jan 25, 2018 no assertion criteria provided clinical testing novel drug response 4 0 0 0 0 Department of Hematology; 303rd Hospital of the People's Liberation Army 506451 clinic Plant Road 52, Nanning, Guangxi, 530021 China 4 Aug 15, 2018 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Genetics of Infertility and Preimplantation Genetic Diagnosis; Centre Hospitalier Universitaire Grenoble Alpes 506452 lab Boulevard de la Chantourne, La Tronche, 38043 France 9 Aug 21, 2019 no assertion criteria provided case-control, clinical testing, research novel Pathogenic 1 1 0 0 0 Genome Diagnostics Laboratory; VU University Medical Center Amsterdam 506453 lab van der Boechorststraat 7, Amsterdam, Noord-Holland, 1081 BT Netherlands 433 Apr 09, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 433 0 0 0 0 Genomic Medicine Laboratory; University of Vermont Medical Center 506454 lab 111 Colchester Avenue, Burlington, Vermont, 05408 United States 2 Dec 03, 2018 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Dental Genetics Laboratory; Seoul National University School of Dentistry 506455 lab Seoul, 03080 South Korea 2 Apr 04, 2018 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Epi4K Consortium 506458 consortium New York, New York, 10032 United States 4 Jan 03, 2018 no assertion criteria provided research novel Likely pathogenic 0 4 0 0 0 Warsaw Genomics; University of Warsaw 506460 lab Pasteura 5a, Warsaw, Mazowieckie, 02-093 Poland 1 Apr 05, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Center of Excellence in Medical Genetics Research; Chiang Mai University 506470 lab Suthep, Chiang Mai, 50200 Thailand 1 Jan 04, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Molecular Neuropsychiatry & Development Lab; Centre for Addiction and Mental Health 506471 lab 250 College St, Toronto, Ontario, M5T 1R8 Canada 2 Jan 10, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 2 0 0 0 University of Uludag Hospital, Genetic Diseases Diagnostic Center; University of Uludag 506472 lab Bursa Turkey 1 Apr 17, 2018 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Piracicaba Dental School; University of Campinas 506473 lab Limeira Avenue, Piracicaba, Sao Paulo, 13414-903 Brazil 1 Apr 10, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Clinical Bioinformatic Lab; Royan Institute 506476 lab Banihashem St. Resalat Highway, Tehran, 16635-148 Iran 1 May 17, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Endocrinology Department; First Hospital Of Shanxi Medical University 506477 clinic Jiefang Southern Road, Taiyuan, Shanxi, 030001 China 2 Nov 06, 2019 criteria provided, single submitter clinical testing, in vitro novel and updates Pathogenic 2 0 0 0 0 Department of Pathology and Genetics; University of Gothenburg 506479 lab Gula Straket 8, Gothenburg, SE-41345 Sweden 6 May 16, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 6 0 0 0 0 Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades; CHU Paris - Hôpital Necker-Enfants Malades 506483 lab 149 rue de Sèvres, Paris, Ile-de-France, 75015 France 36 Jun 19, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 36 0 0 0 0 Reproductive Development; Murdoch Childrens Research Institute 506486 lab Parkville, Victoria, 3052 Australia 67 Oct 21, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 1 66 0 0 0 Service de Pédiatrie - Neurologie et infectiologie - Toulouse; CHU de Toulouse - Hôpital des Enfants 506488 clinic 330 avenue de Grande Bretagne - TSA 70034, TOULOUSE CEDEX 9, Midi-Pyrenees, 31059 France 6 Jan 04, 2019 criteria provided, single submitter case-control, clinical testing novel Likely pathogenic, Uncertain significance 1 0 0 0 0 Department of Paediatric Medicine; Post Graduation Institute of Medical Education and Research 506493 other Sector 12, Chandigarh, Chandigarh, 160012 India 1 Jan 30, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 DNA and Cytogenetics Diagnostics Unit; Erasmus Medical Center 506497 lab Wytemaweg 80, Rotterdam, Zuid-Holland, 3015GE Netherlands 1473 Apr 09, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 1473 0 0 0 0 Pediatric Genomics Discovery Program; Yale University 506499 other 333 Cedar Street - LCI305, New Haven, Connecticut, 06520 United States 12 Feb 24, 2020 criteria provided, single submitter in vitro, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 0 12 0 0 0 Laboratory of Immunology and Cellular Biotechnologies; Immanuel Kant Baltic Federal University 506500 lab 6 Gaidara Street, Kaliningrad, Kaliningrad, 236022 Russia 2 Apr 04, 2018 criteria provided, single submitter case-control novel and updates risk factor, protective 0 0 0 0 0 Medical Genetics Laboratory; University of Pavia 506501 lab 1 Mar 14, 2018 no assertion provided phenotyping only, research novel not provided 0 1 0 0 1 Carson lab; Ohio State University Comprehensive Cancer Center 506502 consortium Columbus, Ohio, 43210 United States 1 Feb 08, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Laboratory of Molecular Neuropathology; The University of Texas Health Science Center at Houston 506506 lab 6431 Fannin St., Houston, Texas, 77030 United States 6 Mar 30, 2018 criteria provided, single submitter clinical testing, literature only novel Likely pathogenic, Uncertain significance 6 0 1 0 0 Hwa Lab, Division of Endocrinology, Cincinnati Children's Hospital Medical Center; University of Cincinnati College of Medicine 506507 lab 3333 Burnet Avenue, MLC 7012, Cincinnati, Ohio, 45229 United States 1 Feb 14, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Pfaffle Lab, University Hospital for Children and Adolescents; University of Leipzig 506510 lab Liebigstrasse 20a, Leipzig, 04103 Germany 3 Jun 06, 2018 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic 2 1 0 0 0 Seattle Children's Hospital Molecular Genetics Laboratory; Seattle Children's Hospital 506512 lab M/S OC.8.720, 4800 Sand Point Way NE, Seattle, Washington, 98105 United States 2 Jul 23, 2019 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 Tampere Brain Tumor Research Consortium; University of Tampere 506513 other Yliopistonkatu FI-33014, Tampere, Southern Finland, 33014 Finland 4 Feb 21, 2018 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Amyloidosis Center; Boston University School of Medicine 506514 lab 72 East Concord St, Building K, Room 508, Boston, Massachusetts, 02118 United States 1 Jun 08, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Division of Hematology/Oncology, Florida; Mayo Clinic 506516 clinic 4500 San Pablo Rd, Jacksonville, Florida, 32224 United States 2 Mar 20, 2018 no assertion criteria provided clinical testing novel drug response 2 0 0 0 0 Biochemical Molecular Genetic Laboratory; King Abdulaziz Medical City 506517 other Riyadh, Ar Riyad, 11246 Saudi Arabia 717 Feb 12, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 717 0 0 0 0 Paediatric Endocrinology - Genetics and Genomic Medicine Program; University College London - Great Ormond Street Institute of Child Health 506519 lab 30 Guildford Street, London, WC1N 1EH United Kingdom 1 Apr 05, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Genetic, Henri Mondor Hospital; Assistance Publique des Hôpitaux de Paris 506520 lab Delattre de Tassigny, Creteil, 94010 France 33 Feb 27, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 33 0 0 0 0 Familial Cancer Clinical Unit; Spanish National Cancer Research Centre (CNIO) 506521 lab Madrid, Madrid, 28029 Spain 1 Mar 01, 2018 no assertion criteria provided clinical testing, in vitro novel Pathogenic 1 0 0 0 0 Arora Lab; Fox Chase Cancer Center 506523 other 333 Cottman Ave, Philadelphia, 19111 United States 4 Mar 21, 2018 no assertion criteria provided research novel Uncertain significance 0 4 0 0 0 Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences; Yonsei University College of Medicine 506524 lab Yonsei-ro 50-1, Seoul, Seoul-t'ukpyolsi, 03722 South Korea 9 Sep 27, 2019 no assertion criteria provided clinical testing, research novel Pathogenic 4 5 0 0 0 Precision Medicine Oncology; Rutgers Cancer Institute of New Jersey 506525 other New Brunswick, New Jersey United States 3 Mar 01, 2018 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance 3 0 0 0 0 Department of Medical Bioinformatics; Sinopath Diagnosis 506527 clinic Beijing China 1 Apr 27, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Schule lab; Hertie Institute for Clinical Brain Research 506529 lab Otfried Muller Strasse 27, Tubingen, Baden-Wurttemberg, 72076 Germany 13 Mar 05, 2018 criteria provided, single submitter research novel Pathogenic, Likely benign 0 13 0 0 0 Pediatric Immunology Service; The Chaim Sheba Medical Center at Tel HaShomer 506530 other Ramat Gan Israel 35 Mar 11, 2018 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 35 0 0 0 Department of Biochemistry; Shiraz University of Medical Sciences 506531 lab Zand Street, Shiraz Iran 1 May 10, 2018 no assertion criteria provided research novel association 0 1 0 0 0 Molecular Genetics Laboratory, Faculty of Medicine; Prince of Songkla University, Thailand 506532 lab HatYai, Songkhla, 90110 Thailand 1 Jun 13, 2018 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 SingHealth Duke-NUS Institute of Precision Medicine; SingHealth 506534 other 9 College Drive, Singapore, 1696016 Singapore 82 Apr 09, 2018 no assertion criteria provided curation novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 82 0 Institute of Human Genetics; Polish Academy of Sciences 506535 other Strzeszynska 32, Poznan, 60-479 Poland 85 Dec 17, 2018 no assertion criteria provided research novel Uncertain significance 0 85 0 0 0 Guangdong Provincial Key Laboratory of South China Structural Heart Disease; Guangdong Cardiovascular Institute 506536 lab 96 Dongchuan Road, Guangzhou, 510100 China 1 Jun 28, 2018 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Clinical Genetics Laboratory; Harran University 506539 lab Osmanbey, Sanliurfa, Sanliurfa, 63000 Turkey 1 Oct 03, 2018 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Hb Lab, Kinderklinik Ulm; University Hospital Ulm 506542 lab Eythstrasse 24, Ulm, D-89075 Germany 1 Mar 21, 2018 no assertion criteria provided literature only novel Pathogenic 0 0 1 0 0 Dept. of Medical Genetics; Telemark Hospital Trust 506543 lab Ulefossv 55, Skien, Telemark, 3710 Norway 30 Jun 20, 2018 no assertion criteria provided research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 30 0 0 0 Center for Precision Medicine; Vanderbilt University Medical Center 506545 lab 2525 West End Ave, Suite 1500, Nashville, Tennessee, 37203 United States 18 Jun 14, 2018 criteria provided, single submitter in vitro, research novel Pathogenic, Likely pathogenic, Uncertain significance 0 18 0 0 0 Weiss Lab; University of Miami 506546 lab 1580 NW 10th Ave. Batchelor building, Miami, Florida, 33136 United States 1 Mar 14, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Otorhinolaryngology Lab - LIM32; University of Sao Paulo School of Medicine Clinics Hospital 506548 lab Av Dr Arnaldo 455 Sala 2209, Sao Paulo, Sao Paulo, 01246000 Brazil 1 May 23, 2018 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Institute for Biomedicine; Eurac Research 506551 lab Via Galvani 31, Bolzano, 39100 Italy 2 May 17, 2020 no assertion criteria provided research novel and updates Likely pathogenic 0 2 0 0 0 Medical Genetics; Hospital Clinico Universitario Virgen de la Arrixaca 506552 clinic Ctra Madrid-Cartagena, s/n, Murcia, Murcia, 30120 Spain 1 Mar 24, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Fan Lab; Zhengzhou University 506554 lab No.100 Science Avenue, Zhengzhou, Henan, 450001 China 3 Sep 19, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Gill Bejerano Lab; Stanford University 506555 lab 279 Campus Drive, Beckman Center B300, Stanford, California, 94305 United States 1 Apr 05, 2018 criteria provided, single submitter in vitro, research novel Likely pathogenic 0 1 0 0 0 The Danek Gertner Institute of Human Genetics; Sheba Medical Center 506556 clinic Ramat Gan Israel 1 Apr 18, 2018 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Magee Womens Research Institute; University of Pittsburgh Medical Center 506557 lab 204 craft avenue , pittsburgh, Pennsylvania, 15213 United States 1 Jun 27, 2018 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 ClinGen PAH Variant Curation Expert Panel; ClinGen 506558 consortium Bethesda, Maryland, 20892 United States 300 Mar 09, 2020 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 300 0 Division of Molecular Medicine; Faculty of Medicine Siriraj Hospital, Mahidol University 506559 lab 2 Prannok Road, Bangkoknoi, Krung Thep, 10700 Thailand 3 Apr 05, 2018 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Kahle Lab; Yale University 506560 lab 333 Cedar Street, New Haven, Connecticut, 06510 United States 3 Jun 11, 2018 criteria provided, single submitter clinical testing novel and updates Likely pathogenic 3 0 0 0 0 Functional Genomic Platform; Centre National pour la Recherche Scientifique et Technique 506564 lab Angle avenues des FAR et Allal El Fassi, Hay Ryad, , B.P. 8027 N.U.? , Rabat , 10102 Morocco 1 Feb 13, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Ocular Genomics Institute; Massachusetts Eye and Ear 506568 lab 243 Charles Street, Boston, Massachusetts, 02114 United States 28 Sep 18, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 16 12 0 0 0 Metabolic Disease laboratory; Sheba Medical Center 506572 lab Tel-Hashomer, Ramat Gan, 52621 Israel 2 Apr 07, 2018 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Laboratory of Medical Genetics; INSERM 506574 lab 11 rue Humann, Strasbourg, 67085 France 74 Apr 15, 2020 criteria provided, single submitter clinical testing, provider interpretation, research novel Pathogenic 5 29 0 0 0 Medical Genetics Summaries; National Institutes of Health 506575 resource 9000 Rockville Pike, Bethesda, Maryland United States 37 Mar 06, 2020 criteria provided, single submitter curation novel drug response 0 0 0 37 0 Hacettepe Genetic Diseases Diagnosis Center; Hacettepe University Faculty of Medicine 506576 lab Hacettepe Mh. 06230 Ankara Turkey, Ankara, 06230 Turkey 16 Apr 28, 2020 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 16 0 0 0 0 Ali Lab, Centre for Genetic Disorders; Banaras Hindu University 506577 lab Varanasi, Uttar Pradesh, 221005 India 2 Jun 04, 2018 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Laboratorio di Genetica e Neuroscienze; Istituto Giannina Gaslini 506578 lab v. G. Gaslini, 5, Genova, 16147 Italy 5 Apr 09, 2018 criteria provided, single submitter research novel Uncertain significance, risk factor 0 5 0 0 0 Department of Clinical Laboratory; Peking University People's Hospital 506579 clinic Xi Zhimen South Street No.11, Beijing, Beijing, 100044 China 1 Apr 18, 2018 criteria provided, single submitter clinical testing, in vitro novel Pathogenic 1 0 0 0 0 Department of Neurology; Taipei Veterans General Hospital 506580 lab #201, Sec.2, Shih-Pai Road, Taipei, 11217 Taiwan 11 Apr 29, 2019 criteria provided, single submitter clinical testing, in vitro novel Pathogenic, Likely pathogenic 11 0 0 0 0 Biomedical Innovation Departament; CIEMAT 506581 resource Av. Complutense nº40, Madrid, Madrid, 28040 Spain 1 Nov 12, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 GeneID Lab - Advanced Molecular Diagnostics 506582 lab 24 Jul 16, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 24 0 0 0 0 Department of Obstetrics and Gynecology; Montefiore Medical Center 506584 clinic Bronx, New York United States 1 May 14, 2018 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Carola Vinuesa Lab; John Curtin School of Medical Research 506585 lab Garran Road, Acton, 2600 Australia 13 Dec 06, 2018 criteria provided, single submitter research novel Pathogenic, Benign 0 13 0 0 0 Cancer Molecular Diagnostics Core; Tianjin Medical University Cancer Institute and Hospital 506586 lab Tiyuanbei, Huanhuxi Road, Hexi District, Tianjin, 300060 China 17 Apr 24, 2018 criteria provided, single submitter research novel Likely pathogenic, Uncertain significance 0 17 0 0 0 Bondeson Group; Uppsala University 506588 lab Husargatan 3, Box 815, Uppsala, Uppsala Lan, 75108 Sweden 2 Jan 08, 2019 criteria provided, single submitter in vivo, research novel Pathogenic, Likely pathogenic 0 2 0 0 0 MK Azim Lab; Mohammad Ali Jinnah University 506589 lab Shahrah e Faisal, Karachi, Sindh, 75400 Pakistan 1 Oct 03, 2018 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Laboratoire de Genetique Moleculaire; Centre Hospitalier Universitaire de Bordeaux 506590 lab 1 Place Amelie Raba Leon, Bordeaux, 33076 Cedex France 6 Apr 28, 2020 criteria provided, single submitter case-control, clinical testing novel Pathogenic 5 0 0 0 0 Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica; Instituto Nacional de Medicina Genómica 506591 lab Periférico Sur 4809, Arenal Tepepan, Mexico city, Distrito Federal, 14610 Mexico 1 Jun 04, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics Lab; Policlinico S. Orsola.Malpighi 506592 clinic Via Massarenti 9, Padiglione 11, Bologna, Emilia-Romagna, 40138 Italy 29 May 14, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 29 0 0 0 0 InterGenetics; InterGenetics-Center for Human Genetics and Genomics 506593 lab 120 Vas. Sophias, Athens, Attiki, 11526 Greece 1 Oct 29, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 CIViC knowledgebase; Washington University School of Medicine 506594 resource 4444 Forest Park Ave, Saint Louis, Missouri, 63108 United States 12 May 02, 2019 criteria provided, single submitter curation novel Pathogenic, Likely pathogenic, drug response, other 0 0 0 12 0 Stephanie Ware Laboratory; Indiana University School of Medicine 506597 lab Indianapolis, Indiana United States 2 May 22, 2018 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic 1 1 0 0 0 Génétique des Maladies du Développement; Hospices Civils de Lyon 506599 lab CBPE, 59 Boulevard Pinel, Bron CEDEX, 69677 France 339 Jun 15, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 339 0 0 0 0 Department of Respiratory and Critical Care Medicine, Tongji Hospital; Tongji Medical College, Huazhong University of Science and Technology 506601 other 1095# Jiefang Ave., Wuhan, Hebei, 430030 China 12 Jun 03, 2018 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 0 0 0 Department of Pathology; Brigham And Women's Hospital 506603 lab 45 Francis St, Shapiro 5, Boston, Massachusetts, 02215 United States 1 May 16, 2018 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Neurogenetics Lab; King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College 506604 lab Acharya Donde Marg, Parel, Mumbai, Maharashtra, 400 012 India 1 May 10, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Medical Cytogenetics and Molecular Genetics Laboratory; IRCCS Istituto Auxologico Italiano 506607 lab Cusano Milanino, Milano, Lombardia Italy 102 Mar 03, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 102 0 0 0 Center of Medical Genetics; Central South University 506608 lab No. 110,Xiangya Road, Changsha, Hunan, 410078 China 68 Mar 26, 2019 no assertion criteria provided clinical testing, in vitro novel Pathogenic, Likely pathogenic, Uncertain significance, association 68 0 0 0 0 Department of Eugenics & Genetics; Women & Infants Hospital of Zhengzhou 506609 clinic 41 Jinshui road, Zhengzhou, Henan, 450000 China 1 May 31, 2018 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 College of Science, Al Muthanna University; Al Muthanna University 506610 other Samawa, Al Muthanna, 964 Iraq 10 Oct 25, 2018 no assertion criteria provided research novel Pathogenic, Benign 0 10 0 0 0 Australian Inherited Retinal Disease Registry & DNA Bank; Sir Charles Gairdner Hospital 506614 resource Hospital Avenue, Perth, Western Australia, 6009 Australia 2 May 29, 2018 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 2 0 0 0 Tehran Medical Genetics Laboratory 506617 lab Tehran, 1598618135 Iran 17 Dec 20, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 17 0 0 0 0 Cytogenetics and Genomics Laboratory; Medical University of South Carolina 506619 lab 171 Ashley Ave, Charleston, South Carolina, 29425 United States 13 Jul 11, 2018 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 13 0 0 0 Neuromuscular Diagnostic Laboratory; American University of Beirut Medical Center 506620 lab Cairo street, Beirut, 1107 2020 Lebanon 5 Jun 12, 2020 criteria provided, single submitter research novel Pathogenic 0 5 0 0 0 3DMed Clinical Laboratory Inc 506621 lab 158 XinJunhuan Street, Shanghai, Shanghai, 201114 China 163 Jun 19, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 163 0 0 0 0 Klco Lab; St Judes Childrens Research Hospital 506624 lab 262 Danny Thomas Place, Memphis, Tennessee, 38103 United States 1 Jul 06, 2018 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Cancer Diagnostics Division; Gene Solutions 506625 lab Ho Chi Minh City Viet Nam 4 Aug 12, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 4 0 0 0 Broad Institute Rare Disease Group; Broad Institute 506627 lab 75 Ames St, Cambridge, Massachusetts, 02142-1403 United States 505 Jun 01, 2020 criteria provided, single submitter reference population, research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 498 0 0 0 Pharmacology and Genetics Laboratory; Bauru School of Dentistry, University of Sao Paulo 506628 lab Alameda Octavio Pinheiro Brisolla 9-75, Bauru, Sao Paulo, 17012901 Brazil 10 Aug 07, 2018 no assertion criteria provided case-control novel Uncertain significance, Benign 0 0 0 0 0 Department of Neurology and Neurophysiology; Children's University Hospital 506629 clinic Temple Street, Dublin 1, 1 Ireland 1 Jun 27, 2018 no assertion criteria provided case-control novel Uncertain significance 0 0 0 0 0 Consultorio y Laboratorio de Neurogenética; Hospital JM Ramos Mejia 506631 clinic Urquiza 609, Ciudad Autonoma de Buenos Aires, Buenos Aires, C1221ADC Argentina 7 Nov 30, 2018 criteria provided, single submitter research novel Likely pathogenic 0 7 0 0 0 Wendy Chung Laboratory; Columbia University Medical Center 506632 lab 1150 St. Nicholas Ave., New York, New York, 10032 United States 45 Sep 11, 2019 criteria provided, single submitter case-control, clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 9 16 0 0 0 Genetics Molecular Biology Lab; Hospital Juan P Garrahan 506633 lab Combate de los pozos 1881, CABA, Distrito Federal, 11245 Argentina 4 Jun 18, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 4 0 0 0 0 Genotek; Genotek Ltd. 506634 lab Nastavnichesky per., 17-1-15, Moscow, 105120 Russia 2 May 22, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 2 0 0 0 0 Brotman Baty Institute; University of Washington 506636 lab 3720 15th Ave NE, Box 355065, Seattle, Washington, 98195 United States 3893 Nov 12, 2018 no assertion provided in vitro novel not provided 0 0 0 0 0 Neuromuscular Group; Huashan Hospital, Fudan University 506637 clinic 12 Middle Wulumuqi Road, Shanghai, 200040 China 2 Jun 28, 2018 criteria provided, single submitter clinical testing novel and updates Likely pathogenic 2 0 0 0 0 Clinical Laboratory; Xuzhou Maternity and Child Health Care Hospital 506639 lab No.46 Heping Road, Xuzhou, Jiangsu, 221009 China 3 Jun 28, 2018 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic 0 0 0 0 0 Marseille Medical Genetics, U1251; Aix Marseille University, Inserm 506640 lab Marseille France 13 Feb 28, 2020 criteria provided, single submitter clinical testing, in vitro, research novel Pathogenic, Likely pathogenic 3 8 0 0 0 Molecular Diagnostics Laboratory; M Health: University of Minnesota 506641 lab 420 Delaware St., Minneapolis, Minnesota, 55455 United States 309 Mar 27, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 309 0 0 0 0 Genetics and Genomics; Alberta Children's Hospital 506642 lab 28 Oki Dr. NW, Calgary, Alberta, T3B 6A8 Canada 2 May 04, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Division of Genetic Medicine; Lausanne University Hospital 506643 lab CHUV BH19, Lausanne, Vaud, 1011 Switzerland 2 Nov 08, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Raymond Lab; University of Cambridge 506644 lab Cambridge, CB2 0XY United Kingdom 33 Mar 12, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 33 0 0 0 Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre; University of Oxford 506645 lab Roosevelt Drive, Oxford, Oxfordshire, OX3 7BN United Kingdom 9 Apr 12, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Uncertain significance, Likely benign 1 8 0 0 0 Department of Molecular Diagnostics; Institute of Oncology Ljubljana 506646 lab Zaloska 2, Ljubljana, 1000 Slovenia 38 Jul 26, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 38 0 0 0 0 Dept of Genetics; Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital 506647 clinic 7 Jul 09, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 7 0 0 0 0 Genomics For Life 506652 lab Herston, Queensland, 4006 Australia 1 Oct 05, 2017 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Genetics; Sultan Qaboos University Hospital, Oman 506653 lab Muscat, 123 Oman 234 Oct 25, 2018 criteria provided, single submitter clinical testing, curation, research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 43 1 0 190 0 DNA Laboratuvarlari GHTM 506654 lab Istanbul, Istanbul Turkey 1 Sep 13, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Cancer Variant Interpretation Group UK; Institute of Cancer Research, London 506655 consortium Cotswold Rd, London, Surrey, SM2 5RG United Kingdom 10 Oct 31, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Likely benign 10 0 0 0 0 Institute of Human Genetics; Martin Luther University Halle-Wittenberg 506656 lab Halle (Saale) Germany 1 Jul 27, 2018 no assertion criteria provided clinical testing, in vivo novel Pathogenic 1 0 0 0 0 Laboratory of Molecular Genetics; Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences 506657 lab 320 Yue Yang Rd. New life science Bulg. Rm 1524,Shanghai,China, Shanghai, Shanghai, 200031 China 2 Jul 24, 2018 criteria provided, single submitter in vitro, research novel Pathogenic, Uncertain significance 0 2 0 0 0 Department of Pediatrics; Hirosaki University Graduate School of Medicine 506659 lab 5 Zaifucho, Hirosaki, 036-8562 Japan 2 Jul 27, 2018 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 UNC Molecular Genetics Laboratory; University of North Carolina at Chapel Hill 506663 lab Campus Box 7525, Chapel Hill, North Carolina, 27599 United States 106 Feb 26, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 106 0 0 0 Laboratory of Medical Genetics; National & Kapodistrian University of Athens 506664 lab Thivon and Levadeias, Athens, Attiki, 11527 Greece 64 Mar 06, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 64 0 0 0 0 Zeviani Lab; University of Cambridge 506665 lab Wellcome Trust / MRC Building, Hills Road, Cambridge, CB2 0XY United Kingdom 4 Jul 01, 2019 criteria provided, single submitter case-control, in vitro, research novel Pathogenic 0 2 0 0 0 HSP Biomedical Diagnostics Department; Hospital San Pedro 506666 lab Calle Piqueras 98, Logroño, 26006 Spain 3 Aug 20, 2018 no assertion criteria provided case-control, clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Unit of Genetics of Neurodegenerative and Metabolic Disease; Fondazione IRCCS Istituto Neurologico Carlo Besta 506667 lab via Celoria 11, Milan, Lombardia, 20133 Italy 1 Sep 26, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Liping Wei Laboratory; Peking University 506669 lab No.5 Yiheyuan Road, Beijing, Beijing, 100871 China 42 Aug 03, 2018 criteria provided, single submitter research novel and updates Pathogenic, Likely pathogenic 0 42 0 0 0 Service de Génétique Médicale; Institut Central des Hôpitaux 506670 lab Avenue Grand-Champsec 86, Sion, 1951 Switzerland 4 Jul 30, 2019 criteria provided, single submitter clinical testing novel Uncertain significance 4 0 0 0 0 Clinical Genomics Lab; St. Jude Children's Research Hospital 506672 resource Memphis, Tennessee, 38105 United States 235 Dec 04, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 235 0 0 0 0 Cancer Genomics Laboratory; Texas Children's Hospital 506673 lab Houston, Texas, 77030 United States 3 Aug 16, 2019 no assertion criteria provided case-control, clinical testing novel Pathogenic, Likely pathogenic, Affects 2 0 0 0 0 Department of Internal Medicine, The University of Texas McGovern Medical School; The University of Texas Health Science Center at Houston 506674 lab 6431 Fannin St., Houston, Texas, 77030 United States 3 Aug 01, 2018 criteria provided, single submitter research novel Likely pathogenic, Uncertain significance 0 3 0 0 0 Clinical Cancer Genetics and Family Consultants; Athens Medical Center 506675 clinic Kifissias 56 & Deflon Street, Marousi, Attiki, 15125 Greece 6 May 02, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 6 0 0 0 0 Dash Lab; University Health Network 506676 lab 12EN-213, 200 Elizabeth St, Toronto, Ontario, M5G 2C4 Canada 11 Jan 20, 2019 no assertion criteria provided research novel Likely pathogenic, Uncertain significance, Benign 0 11 0 0 0 Laboratorio de Biología Molecular; FLENI 506677 lab Montañeses 2325, Buenos Aires, Buenos Aires, 1429 Argentina 1 Apr 19, 2019 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Pathophysiology of Heart Rhythm Disorders; Université Lyon 1 Claude Bernard 506678 lab 8 Av Rockfeller, Lyon, 69008 France 1 Aug 16, 2018 no assertion criteria provided in vitro novel Likely pathogenic 0 0 0 0 0 IRCCS Fondazione Stella Maris; University of Pisa 506679 lab Pisa Italy 4 Apr 08, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 3 1 0 0 0 Medical Genetics Unit; University of L'Aquila 506681 other Piazzale Salvatore Tommasi 1, Delta 6 Building, L'Aquila, Abruzzi, 67100 Italy 2 Aug 21, 2018 no assertion criteria provided clinical testing novel Likely pathogenic 2 0 0 0 0 Stewart Lab; University of Birmingham 506684 lab Vincent Drive, Edgbaston, Birmingham, B15 2TT United Kingdom 2 Aug 13, 2018 no assertion criteria provided in vitro, research novel Likely pathogenic 0 2 0 0 0 Department of Endocrinology and Genetic Metabolic Diseases; Children’s Hospital of Chongqing Medical University 506686 clinic No.136, Zhongshan Er Road, Chongqing, 400014 China 1 Sep 04, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Papaemmanuil Lab; Memorial Sloan Kettering Cancer Research Center 506687 lab 3 Aug 27, 2018 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Nalepa Lab; Indiana University School of Medicine 506688 lab 705 Riley Hospital Drive, Indianapolis, Indiana, 46202 United States 2 Sep 18, 2018 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 2 0 0 0 Western Connecticut Health Network; Rudy L. Ruggles Biomedical Research Institute 506690 lab 131 West street, Danbury, Connecticut, 06810 United States 4 Jun 12, 2019 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 4 0 0 0 Institute of Experimental Epileptology and Cognition Research; University of Bonn 506691 lab Bonn, 53127 Germany 2 Aug 27, 2018 no assertion criteria provided research novel Pathogenic, Likely benign 0 2 0 0 0 Service de genetique medicale, Pr. Levy; Hopital de La Timone Enfants, APHM 506692 lab Marseille, 13385 France 5 Dec 14, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 5 0 0 0 0 ClinGen PTEN Variant Curation Expert Panel 506694 other Lakewood, Ohio United States 144 Mar 30, 2020 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 144 0 Genomic Medicine Lab; University of California San Francisco 506696 lab 513 Parnassus Ave, San Francisco, California, 94143 United States 106 May 13, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 106 0 0 0 0 Kids Research; The Children's Hospital at Westmead 506697 lab Hawkesbury Rd, Northmead, New South Wales, 2154 Australia 50 Mar 08, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 50 0 0 0 Renal Department; Renmin Hospital of Wuhan University 506699 clinic Jiefang Road 238, Wuchang District, Wuhan, 430060 China 1 May 24, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Institute of Neurogenomics; Technical University of Munich 506700 lab Munich Germany 1 Sep 04, 2018 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Immunology Clinic; UCLA 506702 lab 10833 Le Conte Ave, MDCC Building Room 12-430, Los Angeles, California, 90095 United States 1 Aug 30, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 GenHotel - European Research Laboratory for Rheumatoid Arthritis; University of Paris Saclay 506703 lab 2 rue Gaston Cremieux, Evry, 91057 France 1 Sep 28, 2018 no assertion criteria provided research novel risk factor 0 1 0 0 0 Felix Claverie-Martin Laboratory; Hospital Universitario Nuestra Senora de Candelaria 506704 lab Carretera del Rosario S/N, Santa Cruz de Tenerife, 38010 Spain 8 Nov 18, 2019 no assertion criteria provided case-control, clinical testing, in vitro novel Pathogenic 7 0 0 0 0 Human Genetics Laboratory; Faculty of Medicine of Tunis 506705 lab Tunis Tunisia 4 Jun 26, 2019 criteria provided, single submitter case-control, in vitro, research novel Pathogenic, Likely pathogenic 0 2 0 0 0 Uitto Lab; Thomas Jefferson University 506706 lab 233 S 10th street, Philadelphia, Pennsylvania, 19107 United States 53 Nov 08, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 53 0 0 0 0 Division of Paediatric Endocrinology and Diabetes; University of Luebeck 506708 lab Ratzeburger Allee 160, Luebeck, 23562 Germany 3 Sep 14, 2018 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Lab. Molecular Oncology; VUB, Free University of Brussels 506710 other 5 Feb 19, 2015 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance, Likely benign 5 0 0 0 0 Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631; University Hospital of Copenhagen, Rigshospitalet 506711 lab Blegdamsvej 9, Copenhagen, DK-2100 Denmark 1 Apr 09, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Research Institute; National Research Institute for Child Health and Development 506712 lab 2-10-1 Okura, Setagaya, Tokyo, 157-8535 Japan 1 Sep 05, 2018 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 GOSgene; University College London Great Ormond Street Institute of Child Health 506713 lab 30 Guilford Street, London, WC1N 1EH United Kingdom 3 Sep 11, 2019 criteria provided, single submitter case-control novel Likely pathogenic, Uncertain significance 0 0 0 0 0 Dr. Alfred Bastarche Laboratory; Dr. Georges L. Dumont University Hospital Centre 506714 lab 37 Providence Street, Moncton, New Brunswick, E1C8X3 Canada 4 Oct 30, 2018 no assertion criteria provided case-control, clinical testing novel Likely pathogenic, Uncertain significance 4 0 0 0 0 Division of Medical Genetics at University of Versailles; Paris Saclay University 506715 clinic 2 avenue de la source de la Bievre, Montigny, Ile-de-France, 78180 France 1 Sep 14, 2018 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Pediatrics Department; University of Wisconsin 506716 other 1 Mar 11, 2015 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 The Raphael Recanati Genetics Institute; Rabin Medical Center 506717 clinic Jabotinsky St. 39, Petah Tikva, 49100 Israel 13 Sep 13, 2018 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 13 0 0 0 0 Human Genetics Group at Institute of Prion Diseases London; University College London 506718 lab Gower Street, London, London, City of, WC1E 6BT United Kingdom 26 Sep 12, 2018 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 7 19 0 0 0 Laboratory of Medical Genetics; University of Torino 506722 lab via Santena, 19, Torino, Piemonte, 10126 Italy 17 Nov 30, 2018 criteria provided, single submitter clinical testing, literature only novel Pathogenic, Likely pathogenic 14 0 3 0 0 Comparative, Adaptive and Functional Skeletal Biology; CCMAR - University of Algarve 506725 lab Campus de Gambelas, ed 7, Faro, Faro, 8000-139 Portugal 1 Sep 18, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Laboratory Medicine; Soonchunhyang University Seoul Hospital 506726 lab 59 Daesagwan-ro, Yongsan-gu, Seoul, 04401 South Korea 3 Oct 07, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Bio-informatics Data Center; China National GeneBank 506728 resource Shenzhen China 1 Oct 02, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Gharavi Laboratory; Columbia University 506730 lab 1150 Saint Nicholas Avenue, Russ Berrie Pavilion #412C, New York, New York, 10032 United States 1560 Mar 05, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 1560 0 0 0 Institute of Cell Biology and Neurobiology; Charite-Universitaetsmedizin Berlin 506734 lab Chariteplatz 1, Berlin, 10117 Germany 1 Sep 27, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Knight Cancer Institute; Oregon Health and Sciences University 506736 lab 3181 Sam Jackson Park Road, Portland, Oregon, 97239 United States 3 Aug 24, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Department of Immunology and Histocompatibility; University of Thessaly 506737 lab Panepistimiou 3, Larissa, 41500 Greece 32 Feb 18, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 32 0 0 0 0 Cole/Wambach Lab; Washington University in St. Louis 506738 lab 660 S Euclid, Campus Box 8208, St. Louis, Missouri, 63110 United States 10 Nov 21, 2018 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 10 0 0 0 Institute of Life Sciences and Biotechnology; Bezmialem Vakif University 506741 other Adnan Menderes Bulvari Vatan Caddesi Fatih/Istanbul, Istanbul, Istanbul, 34093 Turkey 3 Oct 02, 2018 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 3 0 0 0 Molecular Biology Laboratory; University of Basrah 506742 lab 30, Basrah, Al Basrah, 61 Iraq 34 May 01, 2019 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic 0 0 0 0 0 Department of Urology; The First Affiliated Hospital of Henan University of Traditional Chinese Medicine 506743 clinic No. 19 Renmin Road, Zhengzhou, Henan, 450000 China 1 Mar 12, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 ClinGen Hearing Loss Variant Curation Expert Panel 506744 consortium Bethesda, Maryland, 20892 United States 139 May 26, 2020 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 139 0 van Haaften laboratory; University Medical Center Utrecht 506749 lab Utrecht Netherlands 2 Oct 23, 2018 no assertion criteria provided research novel Uncertain significance 0 2 0 0 0 Polak associated Lab; Imagine Institute 506752 lab PARIS France 3 Oct 16, 2018 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Laboratory of Biochemistry; Caen University Hospital 506753 lab avenue cote de nacre, Caen France 2 Nov 02, 2018 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Lab of Gastroenterology; College of Medicine, First Affiliate Hospital of Zhejiang University 506755 lab 79 Qingchun Road, Hangzhou, Hangzhou, 310003 China 1 Oct 25, 2018 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 International Hereditary Cancer Center PUM; Pomeranian Medical University 506758 lab CNTM, Unii Lubelskiej 1, Szczecin, 71-252 Poland 2 Jan 24, 2020 no assertion criteria provided clinical testing novel Uncertain significance, Likely benign 2 0 0 0 0 Research and Development; Genoox 506759 other Tel Aviv Israel 2 Mar 28, 2019 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Department of Biotechnology and Microbiology; Karnatak University Dharwad 506760 lab Pavate nagar, Dharwad, Karnataka, 580003 India 3 Jun 20, 2019 no assertion criteria provided clinical testing, research novel Likely pathogenic, Uncertain significance 1 2 0 0 0 Wu Jinyu Laboratory, Institute of Genomic Medicine; Wenzhou Medical University 506761 lab Wenzhou China 3 Nov 07, 2018 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Michaelson Lab; University of Iowa 506762 lab 25 South Grand Avenue, Iowa City, Iowa, 52242 United States 5 Oct 29, 2018 no assertion criteria provided research novel Uncertain significance 0 5 0 0 0 Core Molecular Diagnostic Lab; McGill University Health Centre 506763 lab 1001 Decarie Boulevard, Montreal, Quebec, H4A 3J1 Canada 21 Sep 04, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Likely benign 12 9 0 0 0 Pediatric Department; The First Affiliated Hospital of Guangxi Medical University 506766 clinic Shuangyong Road, Nanning, Guangxi, 530021 China 1 Nov 30, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Department of Pediatrics, Union Hospital; Tongji Medical College, Huazhong University of Science and Technology 506768 clinic Wuhan China 2 Nov 01, 2018 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance 2 0 0 0 0 Hakim Medical Genetics Center Laboratory; Neyshabur University of Medical Sciences 506769 lab Neyshabur, Khorasan-e Razavi Iran 2 Apr 15, 2019 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Pediatric Leukemia/Lymphoma; Memorial Sloan Kettering Cancer Center 506771 clinic 1 Nov 01, 2018 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Department of Pediatrics; Driscoll Children's Hospital 506776 other 3533 S. Alameda St., Corpus Christi, Texas, 78411 United States 1 Nov 15, 2018 criteria provided, single submitter clinical testing, research novel and updates Pathogenic 1 1 0 0 0 Department of Medical Genetics; College of Basic Medicine, Army Medical University 506778 lab 30#, Gaotanyan St., Shapingba District, Chongqing, 400038 China 1 Nov 16, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Institute of Clinical Molecular Biology; Kiel University 506779 lab Rosalind-Franklin-Straße 12, Kiel, Schleswig-Holstein, 24105 Germany 2 Nov 06, 2018 no assertion criteria provided research novel Likely pathogenic 0 2 0 0 0 The Division of Genetics and Genomic Medicine; Washington University School of Medicine 506782 clinic 660 South Euclid Avenue, Saint Louis, Missouri, 63110 United States 6 Feb 18, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 6 0 0 0 0 Myelin Disorders Clinic; Children's Medical Center 506785 clinic Keshavarz blvd, Gharib Ave, No 62, Tehran, Tehran, 1419733151 Iran 1 Nov 19, 2018 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Genetic Services Unit; National Institute of Biomedical Genomics 506786 lab 5, Suburban Hospital Road, Kolkata, West Bengal, 700020 India 1 Nov 27, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Pediatrics and Developmental Biology; Tokyo Medical and Dental University 506787 lab 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8510 Japan 1 Nov 27, 2018 criteria provided, single submitter clinical testing novel Uncertain significance 1 0 0 0 0 Dr Goodarzi Genetics and Genomics Lab 506788 lab Shiraz, Fars Iran 1 Mar 04, 2019 no assertion criteria provided clinical testing novel and updates Likely pathogenic 1 0 0 0 0 Laboratory of Human Molecular Genetics; Institute of Cytology and Genetics 506789 lab Novosibirsk Russia 1 Nov 20, 2018 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Bruce Budowle Laboratory; University of North Texas Health Science Center 506790 lab Fort Worth, Texas United States 1610 Nov 13, 2018 no assertion criteria provided research novel drug response 0 1610 0 0 0 Cavalleri Lab; Royal College of Surgeons in Ireland 506791 lab Dublin, Dublin Ireland 195 Jun 01, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 195 0 0 0 Institute for Genomic Medicine (IGM) Clinical Laboratory; Nationwide Children's Hospital 506792 lab 575 Children’s Crossroads, Columbus, Ohio, 43215 United States 135 Mar 06, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 135 0 0 0 0 Genatak 506793 lab Hamad Al Mubarak Street, Salmiya, Kuwait City, Hawalli, 20002 Kuwait 4 Mar 08, 2020 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 Mayo Clinic Genomics Laboratory; Mayo CLinic 506794 lab Rochester, Minnesota, 55905 United States 3 Apr 01, 2019 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Translational Oncology and Experimental Therapeutics Program-IBMCC; Consejo Superior de Investigaciones Científicas 506795 lab Campus miguel de Unamuno, USAL, s/n, Salamanca, Castilla y Leon, 37007 Spain 1 Jan 29, 2019 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Grupo de Pesquisa Clinica e Molecular em Endocrinologia e Metabologia 506796 other Sao Luis, Maranhao, 65020-070 Brazil 1 Nov 28, 2018 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Gregorio Maranon General University Hospital; Gregorio Maranon Health Research Institute 506797 lab Madrid Spain 2 Jan 17, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Seelig Lab; University of Washington 506798 lab 185 E Stevens Way NE, Seattle, Washington, 98195 United States 45 Nov 27, 2018 no assertion provided in vitro novel not provided 0 0 0 0 0 Center for Medical Genetics; GenVams Trust 506800 lab 27, 3rd floor, Tamil Nadu Foundation Building, Taylors Road, Kilpauk, Chennai, Tamil Nadu, 600010 India 2 Apr 16, 2019 criteria provided, single submitter clinical testing, phenotyping only novel Pathogenic, Likely pathogenic 2 0 0 0 1 Pathology and Clinical Laboratory Medicine; King Fahad Medical City 506801 lab As Sulimaniyah, Riyadh, 12273 Saudi Arabia 23 Jun 18, 2019 criteria provided, single submitter clinical testing novel Pathogenic 23 0 0 0 0 Sadaf Naz Human Genetics Laboratory; University of the Punjab 506802 lab Jamia Punjab Road, Lahore, Punjab, 54590 Pakistan 1 Jul 24, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Department of Medical Genetics; University of Pecs 506803 lab Szigeti u. 12, Pecs, 7624 Hungary 6 May 16, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 6 0 0 0 0 Medical Genetics Department; University Hospital Nantes, CHU Nantes 506806 clinic Nantes France 4 Dec 07, 2018 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Medical Genetics; American University of Beirut 506809 lab Riad El Soleh, Beirut, Beyrouth, 11-0236 Lebanon 1 Dec 19, 2018 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Molecular Pathology Diagnostics Labratory; University of Iowa Hospitals & Clinics 506810 lab 200 Hawkins Dr, Iowa City, Iowa, 52242 United States 2 Feb 08, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 2 0 0 0 0 Breda Genetics srl 506812 lab Via Cipro, 1, Brescia, 25124 Italy 19 Jun 15, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Likely benign 19 0 0 0 0 MutSpliceDB: a database of splice sites variants effects on splicing; NIH 506814 resource 9609 Medical Center Drive, Rockville, Maryland, 20850 United States 80 Nov 07, 2019 no assertion provided in vitro, in vivo novel and updates not provided 0 0 0 0 0 State Key Laboratory Of Oral Diseases; Sichuan University 506816 lab Renming North Road 14th, Chengdu, Sichuan, 610000 China 2 Dec 22, 2018 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 ClinGen CDH1 Variant Curation Expert Panel; ClinGen 506817 consortium Bethesda, Maryland, 20892 United States 139 Jan 16, 2020 reviewed by expert panel curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 139 0 Lab of Molecular Oncology; Sapienza University of Rome 506818 lab Rome Italy 5 May 05, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic 5 0 0 0 0 Division of Critical Care, Department of Pediatrics; Cardinal Glennon Children's Hospital 506819 other 1465 S. Grand Blvd, Saint Louis, Missouri, 63104 United States 1 Jan 03, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Laboratory of Human Genetics; Institute of Biosciences - University of Sao Paulo 506820 lab Matao Street, 14, Sao Paulo, Sao Paulo, 05508-090 Brazil 1 Feb 05, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Institute of Human Genetics; Heidelberg University 506821 lab Im Neuenheimer Feld (INF) 366, Heidelberg, Baden-Wurttemberg, 69120 Germany 2 Dec 19, 2018 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 University of Malaya Medical Center; University of Malaya 506822 clinic Jalan Universiti, Kuala Lumpur, 59100 Malaysia 3 Dec 17, 2018 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Johns Hopkins Genomics; Johns Hopkins University 506823 lab 1812 Ashland Ave, Suite 200, Baltimore, Maryland, 21205 United States 230 Dec 05, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 230 0 0 0 0 Poduri Lab; Boston Children's Hospital 506824 lab 3 Blackfan Circle, Mail Stop BCH3149/CLS 14, Boston, Massachusetts, 02115 United States 1 Dec 17, 2018 no assertion criteria provided research novel Uncertain significance 0 1 0 0 0 Laboratory of Molecular Genetics; Yakut Science Centre of Complex Medical Problems 506825 lab Sergelyakhskoe shosse 4, Yakutsk, Sakha, 677000 Russia 3 Nov 07, 2019 criteria provided, single submitter reference population, research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Molecular Dermatology Lab; Tel Aviv Sourasky Medical Center 506826 lab Weizmann 6 St', Tel Aviv, Tel Aviv, 6423906 Israel 6 Dec 19, 2018 criteria provided, single submitter research novel and updates Pathogenic 0 6 0 0 0 Department of Molecular Innovation in Lipidology; National Cerebral & Cardiovascular Center Reseach Institute 506830 lab Kishibe Shinmachi 6-1, Suita, 564-8565 Japan 1 Jan 08, 2019 criteria provided, single submitter clinical testing novel Benign 1 0 0 0 0 Genetic Diseases Diagnostic Center; Koc University Hospital 506831 lab Istanbul, 34010 Turkey 19 Dec 28, 2018 no assertion criteria provided clinical testing novel Likely pathogenic 19 0 0 0 0 AG Reprogenetics; University of Münster 506832 lab Vesaliusweg 12-14, Muenster, Nordrhein-Westfalen, 48149 Germany 18 Oct 09, 2019 criteria provided, single submitter research novel Likely pathogenic, Uncertain significance 0 18 0 0 0 University of Washington Department of Laboratory Medicine; University of Washington 506834 lab 1959 NE Pacific Street Box 357110, Seattle, Washington, 98133 United States 1154 Dec 28, 2018 criteria provided, single submitter clinical testing, in vitro, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 1098 56 0 0 0 Laboratory Oncology Unit, Dr.B.R.A.Institute Rotary Cancer Hospital (Cancer Centre); All India Institute of Medical Sciences 506836 lab Aurobindo Marg, New Delhi, Delhi, 110029 India 1 Mar 19, 2019 criteria provided, single submitter research novel Uncertain significance 0 1 0 0 0 Department of Neurology; Hospital Garcia de Orta 506841 clinic Avenida Torrado da Silva, Almada, 2805-267 Portugal 2 Jan 31, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Genetics and Metabolism Laboratory; Children Hospital Zhejiang University School of Medicine 506843 lab Hangzhou China 1 Jan 14, 2019 no assertion criteria provided case-control novel Likely pathogenic 0 0 0 0 0 Genetics Service, Department of Paediatrics; KK Women's and Children's Hospital 506844 lab 100 Bukit Timah Road, Singapore, 229899 Singapore 3 Aug 29, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 2 0 0 0 Department of Medical Biology, Faculty of Medicine; Hacettepe University 506845 lab Ankara, 06100 Turkey 1 Apr 14, 2020 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Neurology; The Third Xiangya Hospital, Central South University 506846 clinic Tongzipo Road, Changsha, Hunan, 410013 China 1 Jan 25, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Children’s Hospital, Clinical research laboratory; Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 506847 lab Dresden Germany 1 Mar 12, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Genitourinary Malignancies Research Center; Cleveland Clinic 506848 lab 9500 Euclid Ave., NB40, Cleveland, Ohio, 44195 United States 1 Mar 12, 2019 no assertion criteria provided research novel drug response 0 1 0 0 0 Michigan Center for Translational Pathology; University of Michigan 506850 lab 1500 E. Medical Center Drive, Ann Arbor, Michigan, 48109-0940 United States 1 Jan 23, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Medical Genetics; Necip Fazil Sehir Hastanesi 506851 clinic Onikisubat, Kahramanmaras, Kahramanmaras, 46050 Turkey 8 Apr 30, 2019 criteria provided, single submitter clinical testing novel Pathogenic 8 0 0 0 0 Coyote Medical Laboratory (Beijing); Coyote 506852 lab Zhongguancun Life Science Park, Beijing, Beijing, 102206 China 1 Jun 17, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Inherited Eye Disorders lab; UCL Institute of Ophthalmology 506853 lab London United Kingdom 3 Apr 23, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Uncertain significance 1 2 0 0 0 Biologie des Tumeurs Solides; CHU de Montpellier 506854 lab Montpellier, 34295 France 1 Jan 30, 2019 criteria provided, single submitter clinical testing, in vivo novel Pathogenic 1 0 0 0 0 Swiss DNAlysis 506855 lab Adlerstrasse 1, Dubendorf, Zurich, 8600 Switzerland 1 Feb 14, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Human Anatomy, Histology and Embryology;Department of Pathology; Peking University Health Science Center 506856 lab Beijing China 1 Feb 04, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Biochemistry and Genetic Laboratory; APHP Bichat Claude Bernard Hospital 506858 lab 46 rue Henri Huchard, Paris, Ile-de-France, 75018 France 2 Jan 29, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Molecular Genetics Laboratory; University Hospital Copenhagen 506859 lab Blegdamsvej 9, Copenhagen, DK-2100 Denmark 7 May 06, 2020 no assertion criteria provided clinical testing, in vitro novel Likely pathogenic 6 0 0 0 0 Department of Pediatrics; University of Ottawa 506860 other Ottawa, Ontario Canada 2 Apr 08, 2019 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Molecular and Clinical Genetics; Institute of Human Genetics P.A.S. 506861 lab Poznan, 60-479 Poland 4 Feb 22, 2019 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Institute of Bioinformatics 506863 lab Unit 1, 7th Floor, Discoverer Building, ITPB, Whitefield Road, Bangalore, Karnataka, 560066 India 1 Jan 28, 2019 criteria provided, single submitter case-control novel Likely pathogenic 0 0 0 0 0 German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne; University Hospital Cologne 506864 lab Cologne Germany 419 Feb 22, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 419 0 0 0 The Fourth Military Medical University; School of Stomatology 506867 clinic 145 West Changle Road, Xian, Shaanxi, 710032 China 1 Feb 01, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital; College of Medicine, The Catholic University of Korea 506870 clinic 56, Dongsu-ro, Bupyeong-gu, Inch'on-jikhalsi, 21431 South Korea 49 Nov 27, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance, Affects 4 45 0 0 0 Clinical Genetics; Amsterdam Medical Centre 506871 lab Amsterdam Netherlands 2 Feb 20, 2019 no assertion criteria provided clinical testing novel Uncertain significance 2 0 0 0 0 Medical Molecular Genetics Department; Human Genetics and Genome Research Division, National Research Centre 506873 lab Cairo Egypt 3 Jun 12, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Codex Genetics Limited 506874 lab The Hong Kong Science Park, 852 Hong Kong 20 Jul 02, 2019 no assertion criteria provided provider interpretation novel Pathogenic, Likely pathogenic 0 0 0 0 0 Thoracic Oncology Service; Memorial Sloan Kettering Cancer Center 506875 other 1275 York Ave, New York, New York, 10065 United States 1 Feb 07, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Routes Lab; Medical College of Wisconsin 506876 lab 9000 W. Wisconsin Ave. Milwaukee, WI 53226-4874, Milwaukee, Wisconsin, 53172 United States 1 Feb 14, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Human Cancer Genomic Research; King Faisal Specialist Hospital and Research Center 506878 lab MBC 98-16, P.O.Box 3354, Takhasussi Street, Riyadh, 11211 Saudi Arabia 2 Feb 07, 2019 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Laboratory for Clinical Genomics and Advanced Technology; Dartmouth-Hitchcock Medical Center 506879 lab 1 Medical Center Dr, Lebanon, Massachusetts, 03756 United States 1 Feb 11, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Department of Human Genetics; Laborarztpraxis Dres. Walther, Weindel und Kollegen 506880 lab Frankfurt, Hessen, 60437 Germany 38 Feb 28, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 38 0 0 0 0 Center for Studies on Hereditary Cancer; University of Bologna 506881 clinic Via Massarenti 9, Bologna, 40138 Italy 2 Feb 13, 2019 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 2 0 0 0 Palladino Lab; Pittsburgh Institute for Neurodegenerative Disease 506882 lab Pittsburgh, Pennsylvania United States 1 May 13, 2019 no assertion criteria provided in vitro, research novel Pathogenic 0 1 0 0 0 Medical Genetic Team; CHRU Montpellier 506884 consortium 371 Avenue du Doyen Gaston Giraud, Montpellier, Languedoc-Roussillon, 34090 France 2 Apr 29, 2019 criteria provided, single submitter clinical testing, in vitro novel and updates Pathogenic 2 0 0 0 0 National Institute of Sensory Organs; National Hospital Organization Tokyo Medical Center 506885 clinic 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902 Japan 60 Oct 30, 2019 criteria provided, single submitter clinical testing, in vitro, literature only, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Affects, other, association 33 1 26 0 0 Center for Reproductive Medicine; Shandong Provincial Hospital Affiliated to Shandong University 506889 lab Jinan China 6 Oct 11, 2019 criteria provided, single submitter literature only, research novel Pathogenic, Likely pathogenic 0 3 3 0 0 Centro de Estudios en Salud; Universidad de Narino 506891 other Pasto, Narino, 520002 Colombia 1 Nov 05, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Children's Medical Research Institute; University of Sydney 506895 lab 214 Hawkesbury Road, Westmead, New South Wales, 2145 Australia 1 Feb 20, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Department of Clinical and Movement Neurosciences, Institute of Neurology; University College London 506897 lab London United Kingdom 1 Feb 26, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Laboratory of Genetics and Genomics; Institute for Developing Science and Health Initiatives Foundation 506901 lab 9 Mohakhali C/A (Amtoli), Hosaf High Tower, National Bank Building, 8th Floor, Dhaka, Dhaka, 1212 Bangladesh 1 Apr 23, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Flatmark laboratory; Institute for Cancer Research, Oslo University Hospital 506905 lab Montebello, Box 4953, Oslo, 0424 Norway 3 Feb 28, 2019 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 3 0 0 0 Department of Medical Genetics; Ahvaz Jundishapur University of Medical Sciences 506908 lab Boulevard Golestan, Ahwaz, 6135715753 Iran 2 Dec 01, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Pediatric Neurology; Northwest Women’s and Children’s Hospital 506910 clinic No.1616 Yanxiang Road, Xi’an, 710061 China 1 Apr 11, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Hereditary Cancer Genetics group; Vall d'Hebron Institute of Oncology 506912 lab Calle Natzaret, 115-117, Barcelona, Catalonia, 08035 Spain 34 Mar 01, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 0 34 0 0 0 Laboratory of Pediatric Immunoinfectivology; Tor Vergata University 506913 lab Via Montpellier, 1, Rome, Lazio, 00133 Italy 16 Feb 28, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic 16 0 0 0 0 Clinical Genetics Laboratory; Federal University of Health Sciences of Porto Alegre 506914 lab Sarmento Leite 245/403, Porto Alegre, Rio Grande do Sul, 90050-170 Brazil 5 Jun 04, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Child Neurology Division, Pediatrics Department; KAHER's Jawaharlal Nehru Medical College, Belagavi 506915 clinic Nehrunagar, Belagavi, Karnataka, 590010 India 1 Mar 22, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Pharmacogenomics Lab; Chungbuk National University 506916 lab 194-21 Osongsaengmyung-1, Heungdeok, Cheongju, 28644 South Korea 12 Mar 07, 2019 no assertion criteria provided research novel drug response 0 12 0 0 0 Children's Hospital of Wisconsin Genetics Clinic; Medical College of Wisconsin 506918 clinic 9000 West Wisconsin Ave MS#716, Milwaukee, Wisconsin, 53226 United States 1 Apr 09, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Leeds Institute of Medical Research; University of Leeds 506919 lab Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, Leeds, LS9 7TF United Kingdom 3 Jul 30, 2019 criteria provided, single submitter research novel Pathogenic 0 3 0 0 0 Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics; Hospital Universitario Hospital La Paz 506920 lab Madrid Spain 8 Mar 06, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely benign 8 0 0 0 0 Prenatal Diagnostic Center; Guangzhou Women and Children's Medical Center 506922 lab No. 9 Jinsui Road, Guangzhou, Guangdong, 510000 China 1 Apr 12, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Clinical Genetics; University of Leipzig 506924 lab Philipp-Rosenthal-Straße 55, Leipzig, 04103 Germany 2 Mar 21, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 2 0 0 0 0 Wessex Regional Genetics Laboratory; Salisbury District Hospital 506925 lab Odstock Road, Salisbury, Wiltshire, SP2 8BJ United Kingdom 305 Mar 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 305 0 0 0 0 Stem Cell Engineering Center; Hunan Guangxiu Hospital 506927 lab No. 8, Lv Yun Road, High-tech Zone, Changsha, Hunan, 410013 China 3 Mar 31, 2019 no assertion criteria provided research novel Pathogenic 0 3 0 0 0 Department of Pediatric Endocrinology; Cukurova University Medical Faculty 506928 clinic Balcali Hastanesi, Adana, Adana, 01130 Turkey 4 Mar 18, 2019 criteria provided, single submitter clinical testing, research novel Likely pathogenic 3 1 0 0 0 Department of Ophthalmology; Fourth Military Medical University 506930 clinic No.169 Changle West Road, Xi'an, Shaanxi, 710032 China 1 Apr 04, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Division of Neonatology; National Center for Child Health and Development 506932 clinic 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535 Japan 1 Apr 18, 2019 no assertion criteria provided clinical testing novel and updates Pathogenic 1 0 0 0 0 Developmental Disorders Research; Mater Research 506934 lab 37 Kent Street, Woolloongabba, Queensland, 4102 Australia 1 Apr 08, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Klaassen Lab; Charite University Medicine Berlin 506935 lab Lindenberger Weg 80 , Berlin, Berlin, 13125 Germany 74 Jul 17, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 74 0 0 0 Molecular Genetics Center; Sichuan Provincial People's Hospital 506948 lab No.32, West 2nd Section, 1st Ring Road, Chengdu, sichuan province, Sichuan, 610072 China 1 Apr 22, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Genetic Outpatient Clinic; Children's Memorial Health Institute 506949 clinic Al. Dzieci Polskich 20, Warsaw, 04730 Poland 1 May 03, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program; University of New South Wales 506951 lab Kensington, New South Wales Australia 1 Mar 30, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Division of Genome Diagnostics; Radboud University Medical Centre 506953 lab Nijmegen Netherlands 1 Apr 08, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Center of Clinical Laboratory, Zhongshan Hospital; School of Medicine, Xiamen University 506954 lab Xiamen, Fujian China 1 Jun 10, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Human Genetics Laboratory; State University of Rio de Janeiro 506955 lab Rua São Francisco Xavier, 524 - PHLC - sala 501F - Maracanã, Rio de Janeiro, Rio de Janeiro, 20550-013 Brazil 7 Jun 10, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 1 6 0 0 0 Neurology; Jichi Medical University 506956 other Shimotsuke, Tochigi, 3290498 Japan 1 Apr 11, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Dept. of Evolution and Genomic Sciences; University of Manchester 506958 lab Oxford Road, Manchester United States 7 May 02, 2019 no assertion criteria provided clinical testing, research novel Likely pathogenic 6 1 0 0 0 Centre de recherche St Antoine, Sorbonne Université, INSERM; Sorbonne University 506959 lab CRSA, hopital St Antoine, 184 rue du Faubourg Saint-Antoine, Paris, 75012 France 9 Apr 05, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 9 0 0 0 0 University of Iowa Renal Genetics Clinic; University of Iowa 506960 clinic 200 Hawkins Drive, Iowa City, Iowa, 52242 United States 6 May 26, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Likely benign 6 1 0 0 0 Jianshe Wang Lab, Department of Pediatrics; Jinshan Hospital of Fudan University 506962 lab NO.1508 Longhang Road, Jinshan District, Shanghai, 200000 United States 1 Nov 06, 2019 no assertion criteria provided in vitro novel Pathogenic 0 0 0 0 0 UOSA Diagnostica Molecolare e Genomica; IRCCS Policlinico Agostino Gemelli 506963 lab Largo A.Gemelli, 8, ROME, Lazio, 00168 Italy 1 Apr 11, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Diagnostica di Laboratorio; Fondazione Policlinico Gemelli 506966 lab Largo Agostino Gemelli 8, Roma, 00168 Italy 1 Apr 25, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Medical Genetics Department; Assistance Publique Hopitaux de Marseille 506967 lab 264 Rue Saint Pierre, Marseille, 13385 United States 1 Apr 19, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Genetics; Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 506968 lab 22 Boulevard Gambetta, Rouen, 76000 France 44 Feb 12, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 44 0 0 0 0 Unidad de Genómica Médica UC; Pontificia Universidad Católica de Chile 506969 lab Avda. Libertador Bernardo O'Higgins 340, Santiago, Region Metropolitana, 8331150 Chile 11 May 22, 2019 criteria provided, single submitter case-control, clinical testing, research novel Pathogenic 1 9 0 0 0 Hematology laboratory; Robert Debré Hospital 506971 lab 48 Boulevard Sérurier, Paris, 75019 United States 11 Apr 12, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 11 0 0 0 0 San Raffaele Telethon Institute for Gene Therapy; San Raffaele Hospital 506972 lab Via Olgettina 60, Milan, 20132 Italy 4 Apr 30, 2019 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 ACT Genomics 506973 lab Taipei Taiwan 3 May 26, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 3 0 0 0 0 Biochemistry Laboratory of CDMU; Chengde Medical University 506974 lab Anyuan Road, Chengde, Hebei, 067000 China 44 Apr 15, 2019 criteria provided, single submitter case-control novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 0 0 0 Regeneron Genetics Center; Regeneron 506978 lab Tarrytown, New York, 10591 United States 12 Apr 18, 2019 no assertion criteria provided research novel Likely pathogenic, Uncertain significance 0 12 0 0 0 Institute of Reproductive and Child Health; Peking University 506980 lab Xueyuan, Haidian, Beijing, 100191 China 1 Apr 25, 2019 no assertion criteria provided case-control novel Affects 0 0 0 0 0 Biesecker Lab Rare Disease; National Institutes of Health 506981 lab 50 South Drive Room 5140, Bethesda, Maryland, 20892 United States 1 Apr 25, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 UCSD Department of Pediatrics; University of California, San Diego 506983 lab 3020 Children's Way, MC 5004, San Diego, California, 92130 United States 1 May 08, 2019 no assertion criteria provided literature only novel Pathogenic 0 0 1 0 0 Neuromuscular and Neuropediatric Research Group; Germans Trias I Pujol Research Institute 506987 lab Ctra. de Can Ruti. Camí de les Escoles s/n, Badalona, 08916 Spain 5 Sep 16, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Paediatric Orthopaedics Research Lab; Christian Medical College 506988 lab Ida Scudder Road, Vellore, Tamil Nadu, 632004 India 20 Jun 10, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 20 0 0 0 Department of Pediatrics; Gifu University 506989 other Yanagido 1-1, Gifu, Gifu, 501-1194 Japan 106 May 12, 2019 criteria provided, single submitter literature only, research novel Pathogenic, Likely pathogenic, Uncertain significance 0 81 25 0 0 Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery; Institute of Otolaryngology, Chinese PLA General Hospital 506993 lab Beijing China 144 Aug 12, 2019 criteria provided, single submitter case-control novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 0 0 0 0 deCODE genetics 506996 lab Sturlugata 8, Reykjavik, 101 Iceland 4 May 02, 2019 no assertion criteria provided research novel Likely pathogenic, risk factor 0 4 0 0 0 Faculty of Allied and Health Sciences; Imperial College of Business Studies 506998 lab Behria Town, Canal Bank Road, Lahore, 53720 Pakistan 2 Sep 16, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Cancer Genetics Service; National Cancer Centre Singapore 507000 lab 11 Hospital Drive, Singapore, 169610 Singapore 5 May 15, 2019 no assertion criteria provided clinical testing, in vitro, research novel Pathogenic, Likely pathogenic, Uncertain significance 4 1 0 0 0 School of Medicine; Marmara University 507001 lab Pendik, Istanbul, 34692 Turkey 3 May 11, 2019 criteria provided, single submitter clinical testing novel Pathogenic 3 0 0 0 0 Medical Genome Center; National Center of Neurology and Psychiatry 507002 lab 4-1-1 Ogawahigashi, Kodaira, 1887-8551 Japan 1 May 29, 2019 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Mani Lab, Yale Cardiovascular Research Center; Yale University 507005 lab 300 George Street, 7th floor, NEW HAVEN, Connecticut, 06511 United States 4 May 20, 2019 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Center for Biomedical Information; Shanghai Children’s Hospital 507007 lab Shanghai China 2 Jun 10, 2019 criteria provided, single submitter clinical testing novel Uncertain significance 2 0 0 0 0 Department of Paediatrics and Adolescent Medicine; The University of Hong Kong 507009 lab Room 115, New Clinical Building, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam Hong Kong 2 Aug 27, 2019 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Stefan Somlo Laboratory; Yale School of Medicine 507013 lab New Haven, Connecticut, 06520 United States 6 Oct 08, 2019 no assertion criteria provided research novel Pathogenic, Benign 0 6 0 0 0 OSU Cancer Genomics Laboratory; Ohio State University Medical Center 507014 lab 460 W. 12th Ave., BRT 530, Columbus, Ohio, 43210 United States 2 Jun 24, 2019 no assertion criteria provided in vitro, research novel Pathogenic, drug response 0 2 0 0 0 Bertuch Lab; Baylor College of Medicine 507015 lab 1 Baylor Plaza, Houston, Texas, 77030 United States 2 May 21, 2019 criteria provided, single submitter in vitro, research novel Pathogenic 0 1 0 0 0 Sangiuolo Lab - Medical Genetics Laboratory; Tor Vergata University 507016 lab Via Montpellier, 1. 00133 Rome, Rome, 00133 Italy 48 Jun 19, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 48 0 0 0 0 Molecular Haematology Laboratory; NSW Health Pathology 507018 lab Missenden Rd, Royal Prince Alfred Hospital, Camperdown, 2050 Australia 2 Jan 29, 2020 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 The Laboratory of Genetics and Metabolism; Hunan Children’s Hospital 507019 lab Ziyuan Road, 86#, Changsha, Hunan, 410007 China 84 Dec 16, 2019 criteria provided, single submitter case-control, research novel Pathogenic, Likely pathogenic, Uncertain significance 0 60 0 0 0 Mitochondrial Disorders Lab i+12; Hospital Universitario 12 de Octubre 507020 lab CAA Building. 6th Floor-D block. Av Cordoba S/N, Madrid, Madrid, 28041 Spain 2 Feb 11, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Institute of Neuropathology; University Medical Center Hamburg-Eppendorf 507021 lab Martinistrasse 52, Hamburg, 20246 Germany 1 May 21, 2019 no assertion criteria provided clinical testing novel risk factor 1 0 0 0 0 Harbour Laboratory; University of Miami Miller School of Medicine 507022 lab Miami, Florida, 33136 United States 2 May 24, 2019 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Hematology and Blood Transfusion; Iran University of Medical Sciences 507026 other tehran, Tehran, +9895123654 Iran 1 Jun 19, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Institute for Genomic Statistics and Bioinformatics; University Hospital Bonn 507028 lab Venusberg, Campus 1, Bonn, Nordrhein-Westfalen, 53127 Germany 135 Jun 17, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 135 0 0 0 0 Laboratory of Medical Genetics; IRCCS Burlo Garofolo 507029 lab Via dell'Istria 65/1, Trieste, 34137 Italy 1 May 29, 2019 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Center of Human Genetics; Erasme Hospital 507031 lab Route de Lennik 808, Bruxelles, Brussels Hoofdstedelijk Gewest, 1070 Belgium 1 Jun 09, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 ATS GeneTech Pvt Ltd 507033 lab Hyderabad India 1 Jun 10, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 John Walton Muscular Dystrophy Research Centre; Newcastle University 507034 lab Central Parkway, Newcastle upon Tyne, Tyne and Wear, NE1 3BZ United Kingdom 1 Jun 06, 2019 criteria provided, single submitter reference population novel Pathogenic 0 0 0 0 0 Medical Affairs; Enzyvant 507035 other 55 Cambridge Parkway, Suite 900E, Cambridge, Massachusetts, 02142 United States 45 Jul 15, 2019 criteria provided, single submitter literature only novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 45 0 0 Laboratory of Molecular Genetics; Montpellier University Hospital 507037 lab 641 av Giraud, Montpellier, 34093 France 1 Jun 05, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Bioinformatics Institute; Agency for Science, Technology and Research 507038 other 30 Biopolis Street, Singapore, 07-01/Matrix, Singapore, 138671 Singapore 3 Jun 03, 2019 criteria provided, single submitter research novel drug response 0 3 0 0 0 Laboratory of Inherited Metabolic Diseases; Research centre for medical genetics 507039 lab Moskvoreche, 1, Moscow, 115552 Russia 100 Mar 06, 2020 criteria provided, single submitter clinical testing, in vitro, in vivo, research novel Pathogenic, Likely pathogenic, Uncertain significance 97 3 0 0 0 The Cell Therapy Center; The University of Jordan 507041 lab Queen Alia Street, Amman, Amman, 19318 Jordan 4 Aug 02, 2019 criteria provided, single submitter research novel Pathogenic 0 4 0 0 0 Institute for Human Genetics; University Hospital Essen 507042 lab Hufelandstr. 55, Essen, 45147 Germany 30 Aug 05, 2019 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 29 1 0 0 0 Cytogenetics and Genomics Lab; Cyprus Institute of Neurology and Genetics 507045 lab 6 International Airport Av, Nicosia, Nicosia, 2370 Cyprus 3 May 01, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 2 0 0 0 Division of Nephrology; Beth Israel Deaconess Medical Center 507049 clinic 171 Pilgrim Road, Libby 2, Boston, Massachusetts, 02026 United States 2 Jun 12, 2019 no assertion criteria provided provider interpretation novel Likely pathogenic 0 0 0 0 0 Natera Inc 507050 lab San Carlos, California United States 99 Jun 10, 2019 no assertion criteria provided clinical testing, curation novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 98 0 0 1 0 Cytoplasmic Inheritance Laboratory; Institute of Genetics and Cytology 507052 lab Scoriny str, 34, Minsk, 220103 Belarus 1 Jun 28, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics; Sofia University, St. Kliment Ohridski 507053 lab Kozyak 1, Sofia, 1421 Bulgaria 1 Nov 05, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Bjornsson Lab; Johns Hopkins University School of Medicine 507054 lab Baltimore, Maryland United States 1 Jun 09, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Center for Advanced Laboratory Medicine, UC San Diego Health; University of California San Diego 507056 lab 10300 Campus Point Drive, San Diego, California, 92121 United States 721 Jun 12, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 721 0 0 0 0 Reproductive Health Research and Development; BGI Genomics 507058 lab Shenzhen, Guangdong China 218 Apr 13, 2020 no assertion criteria provided case-control, curation novel and updates Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign, risk factor 0 0 0 217 0 Department of Biology; College of Science, Baghdad University 507059 other Al-Jaderiah, AL-Jaderia, Baghdad, 00964 Iraq 1 Jul 26, 2019 no assertion criteria provided case-control novel risk factor 0 0 0 0 0 Clinical Research Group; BGI Genomics 507060 lab Shenzhen, Guangdong, 518000 China 2 Jun 08, 2020 criteria provided, single submitter case-control, research novel and updates Likely pathogenic 0 1 0 0 0 The Genetics Institute; Kaplan Medical center 507062 clinic Pasternak 1, Rehovot Israel 1 Jun 11, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Genetics Department; Polish Mother's Memorial Hospital Research Institute 507063 lab Rzgowska 281/289, Lodz, 93-338 United States 39 Mar 09, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign 0 39 0 0 0 Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital; Mahidol University 507064 lab 2 Wanglang Rd, Bangkoknoi, Krung Thep, 10700 Thailand 1 Aug 22, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 GBinsight Genetic Testing by GB HealthWatch; Genben Lifesciences Corporation 507067 lab 6370 Lusk Blvd. Suite F205, San Deigo, California, 92121 United States 6 May 29, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 6 0 0 0 0 Cellular and Molecular Biology Laboratory; University of Campania Luigi Vanvitelli 507071 lab via de Crecchio 4, Naples, 80138 Italy 1 Jun 25, 2019 no assertion criteria provided in vitro, in vivo novel Pathogenic 0 0 0 0 0 Clinical Genetics Laboratory; Emek Medical Center 507073 lab Rabin st, Afula, 1834111 Israel 1 Oct 29, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Bone sarcomas and remodeling of calcified tissues; INSERM 507075 lab 1 rue Gaston Veil, Nantes, 44000 France 4 Jun 26, 2019 no assertion criteria provided clinical testing novel Pathogenic 4 0 0 0 0 Klinisk genetik och genomik Research; Gothenburg University 507077 lab Gothenburg Sweden 22 Nov 21, 2019 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 1 21 0 0 0 Department of Ophthalmology, Shanghai Ninth people hospital; Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 507079 lab No.833 Zhizaoju Road, Shanghai, Shanghai, 200011 China 6 Jul 25, 2019 no assertion criteria provided clinical testing novel Pathogenic 6 0 0 0 0 Department of Psychiatry and Medical Psychology; Medical University Pleven 507081 clinic Ogragden 2, Pleven, 5800 Bulgaria 1 Jul 29, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Clinical Genomics Unit; Sheba Medical Center 507082 clinic Ramat Gan Israel 2 Sep 19, 2019 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Cardiogenomic Section; Hospital Ramos Mejia 507083 clinic Gral. Urquiza 609, Buenos Aires, C1221 ADC Argentina 1 Jul 26, 2019 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Genome Medicine; Institute for Basic Research in Developmental Disabilities 507084 lab Staten Island, New York United States 29 May 07, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance, Likely benign 29 0 0 0 0 Clinical Genetics Research Group; Karolinska institutet 507086 lab Akademiska Stråket 1, Solna, 17164 Sweden 6 Jul 06, 2019 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 6 0 0 0 Women's and Children's Health; University of Otago 507089 lab Dunedin New Zealand 2 Jul 03, 2019 criteria provided, single submitter provider interpretation, research novel Pathogenic 0 2 0 0 0 Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center; Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 507090 lab 1095# Jiefang Ave., Wuhan 430030, China, Wuhan, Hubei, 430040 China 7 Jul 08, 2019 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic 0 0 0 0 0 Laboratory of Clinical and Experimental Pathology; Xuzhou Medical University 507091 lab X China 1 Aug 01, 2019 no assertion criteria provided case-control novel Affects 0 0 0 0 0 Department of Medical Genetics; Nizam's Institute of Medical Sciences 507093 clinic Punjagutta, Hyderabad, Andhra Pradesh, 500082 India 2 Nov 25, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Molecular Pathology and Genetics; King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 507094 lab Kha'ashem Alaan, Riyadh, Ar Riyad, 11426 Saudi Arabia 3 Jul 16, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 3 0 0 0 0 Department of Pediatrics, Division of Medical Genetics; Faculty of Medicine Ramathibodi Hospital, Mahidol University 507098 clinic 270 Rama 6 Rd, Bangkok, 10400 Thailand 29 Jun 16, 2020 no assertion criteria provided clinical testing, in vitro, research novel Pathogenic, Likely pathogenic, Uncertain significance, Benign 5 24 0 0 0 Laboratory for Population and Evolutionary Genetics; University of Puerto Rico at Mayaguez 507100 lab Road 108, Km. 1.3, Mayaguez, Puerto Rico, 00681-9000 United States 1 Nov 05, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Biochemical Genetics Department; Cyprus Institute of Neurology and Genetics 507101 other 6 Iroon Aveneu, Ayios Dometios, Nicosia, 2371 Cyprus 1 Aug 27, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Genetics Laboratory - UDIAT Centre Diagnòstic; Hospital Universitari Parc Tauli 507102 lab c/Parc Tauli 1, Sabadell, Barcelona, Catalonia, 08208 Spain 15 Jul 16, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 15 0 0 0 0 School of Life Sciences; Central South University 507103 other Changsha China 1 Jul 23, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Molecular Pathology Laboratory; Cleveland Clinic 507104 lab 9500 Euclid Ave., LL2-1, Cleveland, Ohio, 44195 United States 3 Jul 22, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 3 0 0 0 0 Genomic Diagnostics Laboratory; National Institute of Medical Genomics 507106 lab Periferico sur 4809, Mexico city, Mexico, 14610 Mexico 1 Aug 06, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 ClinGen Myeloid Malignancy Variant Curation Expert Panel 507107 consortium Bethesda, Maryland, 20892 United States 71 Mar 06, 2020 reviewed by expert panel curation novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 71 0 Liquid Biopsy and Precision Medicine Group; Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 507109 lab Avda. de la Ilustración, 114, Granada, Andalucia, 18016 Spain 26 Aug 06, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance, risk factor 26 0 0 0 0 Research Unit for Rare Diseases; 1st Faculty of Medicine, Charles University in Prague 507113 lab Prague Czech Republic 6 Dec 11, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance 0 6 0 0 0 Istituto Neurologico Mediterraneo; Istituto di Ricovero e Cura a Carattere Scientifico 507115 lab C/Da camerelle, Pozzilli, Molise, 86077 Italy 5 Oct 17, 2019 no assertion criteria provided clinical testing novel Pathogenic, Benign 5 0 0 0 0 Xiao lab, Department of Pathology; Memorial Sloan Kettering Cancer Center 507116 clinic New York United States 79 Sep 12, 2019 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 79 0 0 0 0 Centre for Medical Genetics, Mumbai 507117 lab 250/251 Ecstasy Business Park, JSD Road, Mulund West, Mumbai, Maharashtra, 400080 India 5 Nov 08, 2019 criteria provided, single submitter clinical testing novel Likely benign, Benign 5 0 0 0 0 Krakow/Cohn Lab; University of California, Los Angeles 507118 lab Los Angeles, California United States 4 Jul 25, 2019 no assertion criteria provided clinical testing, research novel Pathogenic 2 2 0 0 0 CFTR-France; University and hospital of Montpellier 507119 LSDB 640 Av. du doyen Gaston Giraud, Montpellier, 34095 France 474 Sep 16, 2019 criteria provided, single submitter curation novel Pathogenic, Benign 0 0 0 474 0 Cardiology Department; Xiangya Hospital, Central South University 507121 clinic 87 Xiangya Road, Changsha, Hunan, 410078 China 1 Aug 07, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Belal Azab Laboratory; The University of Jordan 507122 lab Queen Rania Street, Amman, Amman, 11942 Jordan 7 Aug 02, 2019 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Benign 0 7 0 0 0 Department of Genetic Research; Imam Abdulrahman Bin Faisal University 507123 lab Institute for Research and Medical Consultations, Dammam, Ash Sharqiyah, 31441 Saudi Arabia 1 Aug 27, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Genetics; Children's Hospital New Orleans 507124 clinic 200 Henry Clay Ave, New Orleans, Louisiana, 70118 United States 2 Jul 29, 2019 criteria provided, single submitter clinical testing novel Uncertain significance 2 0 0 0 0 Cardiovascular Genetics and the Laboratory of Forensic Genetics; Cyprus Institute of Neurology and Genetics 507125 lab Iroon Avenue 6, Agios Dometios, Nicosia, Nicosia, 2371 Cyprus 1 Oct 17, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Difficult and Complicated Liver Diseases and Artificial Liver Center; Beijing You An Hospital, Capital Medical University 507126 clinic No.8, Xitoutiou, You'anmen, Fengtai District, Beijing, 100069, China., Beijing, Beijing, 100069 China 14 Aug 07, 2019 no assertion criteria provided case-control novel Pathogenic, Likely benign, Benign 0 0 0 0 0 Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University; Children's Medical Center, Pediatrics Center of Excellence, 507127 clinic Tehran Iran 67 Jun 15, 2020 no assertion criteria provided clinical testing novel Uncertain significance 67 0 0 0 0 Genome Sciences and Precision Medicine Center; Medical College of Wisconsin 507128 other 8701 W Watertown Plank Rd, Wauwatosa, Wisconsin, 53226 United States 2 Aug 27, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 2 0 0 0 0 College of Medicine Research Centre; King Saud Univeristy 507129 lab Riyadh, 11451 Saudi Arabia 1 Aug 22, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Human Genetics Department; DeNA Laboratory 507131 other Tehran, Tehran Iran 9 Apr 30, 2020 no assertion criteria provided case-control, clinical testing novel Pathogenic, Uncertain significance 4 0 0 0 0 Cancer medicine; Gaomi People's Hospital 507133 clinic 325 Wenhua Road, Gaomi, Shandong, 261500 China 1 Nov 14, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Clinical Laboratory; New York Genome Center 507135 lab 101 Avenue of the Americas, New York, New York, 10013 United States 1 Aug 09, 2019 no assertion criteria provided provider interpretation novel drug response 0 0 0 0 0 Genetics Laboratory; Instituto de Ciencias en Reproduccion Humana 507136 clinic Plaza las Americas 115, Col. Jardines del Moral, Leon, Guanajuato, 037160 Mexico 7 Apr 23, 2020 criteria provided, single submitter clinical testing, research novel and updates Pathogenic, Likely pathogenic, Uncertain significance 4 3 0 0 0 Sección de Genética Clínica; Hospital Clinico Universidad de Chile 507137 other Santos dumont 999, Santiago, Region Metropolitana, 8380456 Chile 1 Oct 18, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 SavaGenome Genetic Health Clinic 507138 clinic Unit 6, No.132, Vozara Street, Tehran, Tehran, 1516748617 Iran 2 Oct 21, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Benign 2 0 0 0 0 Neurology Institute; Anhui University of Chinese Medicine 507139 clinic Changjiang road 357, Hefei, Anhui, 0551 China 1 Jan 02, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 ClinGen TP53 Variant Curation Expert Panel; ClinGen 507142 consortium Bethesda, Maryland, 20892 United States 43 Sep 23, 2019 reviewed by expert panel curation novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 0 0 43 0 NxGen MDx 507143 lab 2 Mar 09, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 2 0 0 0 0 Genesis Genome Database 507145 lab Miami, Florida United States 310 Aug 19, 2019 no assertion criteria provided research novel Uncertain significance 0 310 0 0 0 Neuromuscular Department, Shariati Hospital; Tehran University of Medical Sciences 507147 clinic Tehran Iran 7 May 26, 2020 no assertion criteria provided clinical testing, research novel Pathogenic, Likely pathogenic, Uncertain significance 4 3 0 0 0 Beijing Mygenostics Co., Ltd. 507148 lab Juhong Building, KongGang Industrial Park,Shunyi District, Beijing China 1 Aug 29, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Chemical Pathology; Prince of Wales Hospital 507149 lab 30-32 Ngan Shing Street, Shatin Hong Kong 2 Aug 21, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 2 0 0 0 0 UT Southwestern Medical Center; UT Southwestern Medical Center 507157 lab 5323 Harry Hines Blvd, Skapek lab J4.132, Dallas, Texas, 75390 United States 1 Oct 11, 2019 criteria provided, single submitter clinical testing, in vitro, in vivo novel drug response 1 0 0 0 0 Daan van Aalten Lab; University of Dundee 507163 lab Dow Street, Dundee, DD1 5EH United Kingdom 6 Oct 07, 2019 no assertion criteria provided clinical testing, literature only novel Pathogenic, Uncertain significance 1 0 5 0 0 Matlow's Ophthalmo-genetic Laboratory; Assaf Harofe Medical Center 507167 lab Zeriffin Israel 1 Oct 16, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 National Institute for Data Science in Health and Medicine, School of Medicine; Xiamen university 507168 lab Xiang'an South Road, Xiamen, 361102 China 1 Oct 10, 2019 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Molecular Oncology Initiative; University of California, San Francisco 507170 patient registry San Francisco United States 3 Sep 10, 2019 no assertion criteria provided clinical testing novel Pathogenic 3 0 0 0 0 Treehouse Childhood Cancer Initiative; UC Santa Cruz 507171 lab 1156 High St, Santa Cruz, California, 95064 United States 3 Sep 04, 2019 no assertion criteria provided clinical testing novel Uncertain significance 3 0 0 0 0 Clinical Genetics Center; Tokyo Medical University Hospital 507172 clinic 6-7-1, Nishi-Shinjuku, Shinjuku, Tokyo, 1600023 Japan 1 Nov 25, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Medical Genomics Research Department; King Abdullah International Medical Research Center 507173 lab Jaber St., Riyadh Saudi Arabia 1 Feb 24, 2020 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Arin Greene Laboratory; Boston Children's Hospital, Harvard Medical School 507176 lab 5 Sep 05, 2019 no assertion criteria provided research novel Pathogenic 0 5 0 0 0 Tan Tock Seng Hospital; National Healthcare Group 507177 other CDC2 Block 203, 11 Jalan Tan Tock Seng, Singapore, 308433 Singapore 1 Sep 11, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit; IRCCS Fondazione Stella Maris 507178 lab Pisa Italy 4 Sep 07, 2019 criteria provided, single submitter research novel Pathogenic 0 4 0 0 0 Applied Bioinformatics Laboratories; New York University School of Medicine 507181 resource New York, New York, 10016 United States 1 Oct 19, 2019 criteria provided, single submitter research novel drug response 0 1 0 0 0 Department of Neurology, Guangzhou First People’s Hospital; School of Medicine, South China University of Technology 507183 clinic No.1 Panfu Road, Guangzhou, Guangdong, 510180 China 13 Sep 22, 2019 no assertion criteria provided reference population novel Pathogenic 0 0 0 0 0 Cardiogenetic Laboratory; Instituto Murciano de Investigación Biosanitaria 507185 lab Ctra Buenavista s/n, Murcia, Murcia, 30120 Spain 1 Sep 24, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Laboratory of Cellular Biochemistry and Molecular Biology; Catholic University 507186 lab Piazza Buonarroti, Milan, 20145 Italy 1 Sep 10, 2019 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies; Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca 507187 lab Casablanca Morocco 922 Oct 07, 2019 no assertion criteria provided clinical testing novel Uncertain significance 922 0 0 0 0 Indiana University School of Medicine, Medical & Molecular Genetics; Indiana University School of Medicine 507189 clinic 975 W. Walnut St., IB-130, Indianapolis, Indiana, 46202 United States 1 Oct 25, 2019 criteria provided, single submitter literature only novel Pathogenic 0 0 1 0 0 Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire; Universite Libre de Bruxelles 507190 lab Brussels Belgium 30 Sep 13, 2019 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 30 0 0 0 0 The Center for Liver Diseases; Children's Hospital of Fudan University 507193 lab Shanghai, Shanghai China 24 Nov 04, 2019 criteria provided, single submitter clinical testing, in vitro novel Pathogenic, Likely pathogenic 24 0 0 0 0 Laboratorios de Investigación en Biología Molecular e Inmunología; Universidad Autónoma de Nayarit 507194 lab Ciudad de la Cultura Amado Nervo, Tepic, Nayarit, 63000 Mexico 2 Oct 21, 2019 criteria provided, single submitter research novel association 0 2 0 0 0 Farrar Lab, Smurfit Institute of Genetics; Trinity College Dublin 507197 lab Smurfit Institute Of Genetics, Trinity College Dublin, Dublin, Dublin, Dublin 2 Ireland 1 Apr 08, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Pediatrics, Tongji Hospital; Tongji Medical College, Huazhong University of Science and Technology 507198 clinic 1095 Jiefang Avenue, Wuhan, 430030 China 1 Nov 24, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Haematogenetics; ICMR National Institute of Immunohaematology 507200 lab 13th Floor, NMS Building KEM Hospital, Parel,, Mumbai, Maharashtra, 400012 India 4 Oct 04, 2019 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 VIB - Center for Molecular Neurology; University of Antwerp 507201 lab Antwerp Belgium 2 Nov 02, 2019 no assertion criteria provided research novel Likely pathogenic 0 2 0 0 0 Institute of Pediatric Research, Children's Hospital of Soochow University; Soochow University 507203 clinic Suzhou China 3 Oct 17, 2019 criteria provided, single submitter clinical testing novel Uncertain significance 3 0 0 0 0 GenomeConnect - CFC International 507204 lab Lewisburg United States 25 Oct 01, 2019 no assertion provided phenotyping only novel and updates not provided 0 0 0 0 25 GenomeConnect - No Stomach For Cancer 507205 lab Lewisburg United States 3 Mar 26, 2020 no assertion provided phenotyping only novel not provided 0 0 0 0 3 GenomeConnect-Association for Creatine Deficiencies 507206 patient registry Lewisburg United States 35 Oct 24, 2019 no assertion provided phenotyping only novel not provided 0 0 0 0 35 GenomeConnect - CureCADASIL 507207 patient registry Lewisburg, Pennsylvania, 17847 United States 18 Oct 01, 2019 no assertion provided phenotyping only novel and updates not provided 0 0 0 0 18 GenomeConnect - GM1 507208 lab Lewisburg United States 18 Apr 22, 2020 no assertion provided phenotyping only novel not provided 0 0 0 0 18 Dustin Baldridge Laboratory; Washington University in St. Louis 507210 lab 660 S Euclid Ave, CB 8116, St. Louis, Missouri, 63110 United States 1 Oct 02, 2019 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Institute of Medical Genetics; ASUI Udine 507219 lab via chiusaforte, ingresso E, Udine, Friuli-Venezia Giulia, 33100 Italy 1 Oct 21, 2019 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Stankiewicz Research Laboratory; Baylor College of Medicine 507221 lab One Baylor Plaza, Rm ABBR-R809, Houston, Texas, 77030 United States 17 Oct 03, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 17 0 0 0 Wang Lab, Institute of Neuroscience; Xiamen university 507224 lab Xiamen, 361102 China 2 Oct 24, 2019 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Clinical Genetics Branch; National Institutes of Health 507226 lab Bethesday, Maryland, 20892-9772 United States 2 Nov 19, 2019 no assertion criteria provided research novel Likely pathogenic 0 2 0 0 0 Molecular Cardiogenetic Lab; Hospices Civils de Lyon 507227 lab 59 Boulevard Pinel, Bron, Rhone-Alpes, 69677 Cedex France 3 Jan 07, 2020 no assertion criteria provided in vitro novel and updates Pathogenic 0 0 0 0 0 Department of Pediatrics, Graduate School of Medical Sciences; Kyushu university 507229 lab 3-1-1 Maidashi, Higashi-ku, Higashi-ku, Fukuoka, 8128582 Japan 1 Nov 18, 2019 no assertion criteria provided curation novel Likely pathogenic 0 0 0 1 0 Department of Maternal-Fetal Biology; National Research Institute for Child Health and Development 507231 lab 2-10-1 Okura, Setagaya, Tokyo, 157-8535 Japan 1 Nov 09, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Laboratory of Molecular Genetics MedGen 507238 lab 7 Jul 01, 2014 no assertion provided literature only novel not provided 0 0 7 0 0 Division of Respiratory Medicine of Juntendo University; Juntendo University Faculty of Medicine and Graduate School of Medicine 507239 clinic 3-1-3 Hongo, Bunkyo-Ku, Tokyo, 113-8431 Japan 1 Dec 26, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Myriad Women's Health, Inc. 507240 lab 180 Kimball Way, South San Francisco, California, 94080 United States 912 Jan 15, 2020 criteria provided, single submitter clinical testing, literature only novel and updates Pathogenic, Likely pathogenic, Uncertain significance 891 0 21 0 0 Molecular Therapies Laboratory; Murdoch University 507242 lab Building 390, Health Research Centre, Discovery Way, Murdoch WA 6150, Perth, Western Australia, 6150 Australia 7 Mar 06, 2020 no assertion criteria provided clinical testing, research novel Pathogenic 6 1 0 0 0 Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine,UCT/MRC Genomic and Precision Medicine Research Unit; University of Cape Town 507244 lab Anzio Road, Observatory, Cape Town, Western Cape, 7925 South Africa 1 Feb 21, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Diagnostics Lab (ASPIRE); CSIR - Centre for Cellular and Molecular Biology 507246 lab Medical Biotechnology Complex, CCMB Annexe II, Genpact Road,IDA Uppal, Habsiguda, Hyderabad – 500039 Telangana State, Hyderabad, 500039 India 88 May 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 88 0 0 0 0 The ITHANET community portal; The Cyprus Institute of Neurology and Genetics 507248 LSDB Nicosia, Nicosia, 1683 Cyprus 288 Nov 25, 2019 no assertion criteria provided curation novel Pathogenic, Benign 0 0 0 288 0 Cardiovascular Medicine; National Cerebral Cardiovascular Center 507252 lab 6-1 Kishibe-Shimmachi, Suita, 564-8565 Japan 1 Nov 01, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Aflac Cancer and Blood Disorders Center; Children's Healthcare of Atlanta 507254 clinic Atlanta, Georgia United States 2 May 05, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic, Uncertain significance 2 0 0 0 0 Swedish Neurofibromatosis Center; Swedish Medical Center 507255 clinic 500 17th Ave, Suite 540, Seattle, Washington, 98122 United States 5 May 03, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 5 0 0 0 0 Cancer Genomics Group; Japanese Foundation For Cancer Research 507256 lab 3-8-31 Ariake, Koto-ku, Tokyo, 135-8550 Japan 298 Feb 27, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 298 0 0 0 Jiangsu Key Laboratory of Oral Diseases; Nanjing Medical University 507257 lab Hanzhong Road, nanjing, Jiangsu, 210000 China 5 Jan 15, 2020 no assertion criteria provided in vitro, in vivo, research novel Uncertain significance 0 4 0 0 0 Medical Genetics and Immunology; Urmia University of Medical sciences 507263 lab kilometer 11 nazloo road, Urmia, 1111111111 Iran 2 Mar 27, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic, Likely pathogenic 1 1 0 0 0 Center for Computational Genomics and Data Science; University of Alabama 507266 other 1720 2nd Ave South, Birmingham, Alabama, 35294 United States 6 Jun 09, 2020 criteria provided, single submitter case-control, research novel Pathogenic, risk factor 0 5 0 0 0 HLA Laboratory; Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 507267 lab Calzada de Tlalpan 4502, Col. Sección XVI, Delegación Tlalpan, Mexico, Distrito Federal, 14080 Mexico 13 Mar 30, 2020 no assertion criteria provided case-control novel association 0 0 0 0 0 State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute; Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University 507268 lab Shanghai China 2 Oct 24, 2019 no assertion criteria provided case-control novel Pathogenic 0 0 0 0 0 Noelle C. Anastasio Laboratory; University of Texas Medical Branch 507269 lab 301 University Blvd, Galveston, Texas, 77555-5303 United States 1 Jan 17, 2020 no assertion criteria provided research novel Likely benign 0 1 0 0 0 Unidad de Genómica Garrahan; Hospital de Pediatría Garrahan 507274 lab Combate de los Pozos 1881, Buenos Aires, Distrito Federal, 1245 Argentina 2 Jun 12, 2020 criteria provided, single submitter clinical testing novel Pathogenic 2 0 0 0 0 Laboratorio de Genética; Hospital Universitario Clinico San Cecilio 507275 lab Avda Innovacion, Granada, Andalucia, 18016 Spain 8 Mar 19, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 8 0 0 0 0 Finnell Lab; Baylor College of Medicine 507276 lab One Baylor Plaza, Room R830, Houston, Texas, 77030 United States 8 Nov 15, 2019 no assertion criteria provided case-control novel Pathogenic, Likely pathogenic 0 0 0 0 0 UCSF Pediatric Lipid Clinic; University of California, San Francisco 507279 clinic San Francisco, California United States 3 Nov 15, 2019 criteria provided, single submitter clinical testing novel Pathogenic 3 0 0 0 0 Laboratorio de Medicina Genomica; Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra 507281 lab Avenida Mexico-Xochimilco 289, Mexico, 14389 Mexico 1 May 23, 2020 criteria provided, single submitter clinical testing novel and updates Pathogenic 1 0 0 0 0 Epilepsy Neurogenetics Initiative; Children's Hospital of Philadelphia 507282 clinic 3401 Civic Center Blvd, Philadelphia, Pennsylvania, 19104 United States 9 Feb 13, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 9 0 0 0 Service de Biochimie Médicale et Biologie Moléculaire; CHU Clermont-Ferrand 507283 lab 51 May 25, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 51 0 0 0 0 University Health Network; Princess Margaret Cancer Centre 507285 other 700 University Avenue, Toronto, Ontario, M5G 1Z5 Canada 2 Nov 04, 2019 no assertion criteria provided research novel Pathogenic, Uncertain significance 0 2 0 0 0 Cytogenomics Laboratory; University of Sao Paulo 507287 lab 155 Dr. Eneas de Carvalho Aguiar, Sao Paulo, Sao Paulo, 05403000 Brazil 1 Jan 21, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Research Centre for Medical Genetics; Federal State Budgetary Scientific Institution 507291 lab ul. Moskvorechye, 1, Moscow, 115522 Russia 1 Nov 04, 2019 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Department of Translational Medicine; University of Naples Federico II 507292 clinic Naples Italy 2 Jun 02, 2020 no assertion criteria provided clinical testing novel Pathogenic 2 0 0 0 0 Genetics and Genomics Program; Sidra Medicine 507294 lab Doha, Ar Rayyan, 26999 Qatar 41 Nov 10, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 41 0 0 0 Department of Obstetrics and Gynecology; Medical College of Wisconsin 507295 other Milwaukee, Wisconsin United States 1 Jan 10, 2020 no assertion criteria provided provider interpretation novel Uncertain significance 0 0 0 0 0 Genetic Diagnosis Center, Faculty of Medicine; Trakya University 507296 lab D100, Edirne, Edirne, 22030 Turkey 1 Nov 26, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Kowloon West Cluster Laboratory Genetic Service; Princess Margaret Hospital 507297 lab Hong Kong Hong Kong 1 Nov 15, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 The Walter and Eliza Hall Institute of Medical Research 507299 lab 1G Royal Parade, Parkville, Victoria, 3052 Australia 1 Dec 10, 2019 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Biochemistry Laboratory; Bechir Hamza Children's Hospital 507300 other Bab Saadoun Square, Tunis Tunisia 5 Dec 20, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 5 0 0 0 Department of Biochemistry, Faculty of Medicine; University of Khartoum 507301 lab Alqsr street, Khartoum Sudan 3 Jun 05, 2020 criteria provided, single submitter research novel Pathogenic, Likely pathogenic 0 3 0 0 0 Institut national de la santé et de la recherche médicale; INSERM 507308 lab 10 avenue de verdun, Paris, Ile-de-France, 75010 France 1 Nov 19, 2019 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Department of Medical Genetics; Hunan Provincial Maternal and Child Health Care Hospital 507311 clinic NO.53 Xiangchun Road, Changsha, changsha, Hunan, 410008 China 4 Mar 31, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 4 0 0 0 0 Section for Clinical Neurogenetics; University of Tübingen 507314 lab Tuebingen, 72076 Germany 60 Nov 26, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 60 0 0 0 MedGen Diagnostic Laboratory; MedGen Medical Centre 507318 lab Wiktorii Wiedenskiej 9a, Warsaw, 02-954 Poland 1 Dec 10, 2019 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Unidade de Eritropatologia e Metabolismo do Ferro; Centro Hospitalar e Universitário de Coimbra 507319 lab Hospital Pediátrico, Coimbra, 3000-602 Portugal 5 May 22, 2020 criteria provided, single submitter case-control, clinical testing, in vivo novel Pathogenic 2 0 0 0 0 Neuromuscular Research; Maastricht University Medical Centre 507320 clinic Maastricht Netherlands 62 Nov 27, 2019 criteria provided, single submitter clinical testing novel and updates Pathogenic, Benign 62 0 0 0 0 Fundacion Favaloro; PRICAI 507321 lab Av. Belgrano 1782 1° subsuelo, Ciudad Autonoma de Buenos Aires, Buenos Aires, 1093 Argentina 4 Nov 26, 2019 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 4 0 0 0 Genetics; INEBIR 507322 clinic Av. Cruz Roja, 1, Seville, Andalucia, 41009 Spain 2 Feb 01, 2020 criteria provided, single submitter clinical testing, in vitro novel Pathogenic 2 0 0 0 0 Center for Reproductive Medicine; University of Science and Technology of China 507324 lab Room 407, Medical building, Middle Campus of USTC , Hefei, China 230027, Hefei, Anhui, 230027 China 1 Dec 05, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Institute of Genomic Medicine; Catholic University 507325 lab Largo Francesco Vito 1, Roma, Lazio, 00168 Italy 1 Jan 08, 2020 no assertion criteria provided clinical testing novel Likely benign 1 0 0 0 0 Applied Genomics Center; Hong Kong University of Science and Technology 507329 lab Hong Kong China 8 Apr 12, 2020 no assertion criteria provided case-control novel Benign, risk factor 0 0 0 0 0 Quironsalud Teknon Heart Institute; Quironsalud Teknon Hospital 507331 clinic Carrer Vilana 12, Barcelona, Catalonia, 08030 Spain 1 Dec 05, 2019 no assertion criteria provided research novel Uncertain significance 0 1 0 0 0 Centro Nacional de Biotecnologia; Consejo Superior de Investigaciones Cientificas 507333 lab Darwin, 3, Madrid, Madrid, 28049 Spain 1 Dec 10, 2019 no assertion criteria provided research novel Affects 0 1 0 0 0 Prenatal Diagnosis Center; Guizhou Provincial People's Hospital 507334 lab No. 83 East Zhongshan Road, Guiyang, Guizhou, 550002 China 1 Dec 19, 2019 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Xu Lab, Pediatric Cardiology; Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine 507339 lab Shanghai China 7 Apr 23, 2020 criteria provided, single submitter case-control novel Likely pathogenic 0 0 0 0 0 Neil Romberg Laboratory; Children's Hospital of Philadelphia 507340 lab Philadelphia, Pennsylvania, 19104 United States 4 Dec 12, 2019 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Laboratory of Neurogenetics and Neuroinflammation; Institut Imagine 507341 lab 24 boulevard du Montparnasse, Paris, Ile-de-France, 75015 France 19 Dec 10, 2019 no assertion criteria provided clinical testing novel Pathogenic 19 0 0 0 0 Mount Sinai Diagnostic Laboratory; Icahn School of Medicine at Mount Sinai 507344 lab One Gustave L. Levy Place, Box 1498, New York, New York, 10029 United States 3 Dec 31, 2019 criteria provided, single submitter research novel Pathogenic, Benign 0 3 0 0 0 Center for Advanced Diagnostics; Brigham And Women's Hospital 507345 lab 70 Francis Str, Boston, Massachusetts, 02115 United States 17 May 03, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 17 0 0 0 0 Linda Baker Laboratory; UT Southwestern Medical Center 507351 lab 5323 Harry Hines Blvd, Mail Code:9110, Dallas, Texas, 75390 United States 3 Dec 27, 2019 criteria provided, single submitter case-control, research novel Likely pathogenic, Uncertain significance 0 2 0 0 0 Children's Cancer Therapy Development Institute 507352 other 12655 SW Beaverdam Rd, Beaverton, Oregon, 97005 United States 19 Dec 13, 2019 no assertion criteria provided literature only novel Pathogenic, not provided 0 0 19 0 0 Clinical Genetics Laboratory; Skane University Hospital Lund 507353 lab Lund, Skane Lan Sweden 1 Dec 16, 2019 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Laboratory of Genetic Engineering; National Research Center for Hematology 507358 lab New Zykovsky proezd. 4, Moscow, 125167 Russia 1 Feb 13, 2020 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Division of Human Genetics; University Cheikh Anta Diop 507359 lab Rue de la corniche ouest, Dakar, BP15950 Senegal 1 Dec 23, 2019 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Molecular Diagnosis Center for Deafness 507362 lab Beijing China 1 Dec 30, 2019 criteria provided, single submitter case-control novel Pathogenic 0 0 0 0 0 Genomics Facility; Ludwig-Maximilians-Universität München 507363 lab Lindwurmstr. 4, München, Bayern, 80337 Germany 2 Jun 10, 2020 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 Medical Genetics; Spectrum Health 507367 clinic 25 Michigan Street Suite 2000, Grand Rapids, Michigan, 49503 United States 1 Jan 29, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Molecular Biology and Genetics; Istanbul Technical University 507375 lab MOBGAM, ITU Ayazaga, Istanbul, 34469 Turkey 17 Apr 23, 2020 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 17 0 0 0 Center for Inherited Cardiovascular Diseases; IRCCS Fondazione Policlinico San Matteo 507376 clinic piazzale Golgi 19, Pavia, Lombardia, 27100 Italy 1 Jan 06, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Endocrinology; The Second Hospital of Jilin University 507383 lab Changchun, 130041 China 3 Feb 12, 2020 no assertion criteria provided clinical testing novel risk factor 3 0 0 0 0 Center of Excellence for Medical Genomics; Chulalongkorn University 507386 lab Rama IV Road, Phatumwan, Krung Thep, 10330 Thailand 3 Apr 09, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Uncertain significance 3 0 0 0 0 Translational Omics Lab at Great Ormond Street Institute of Child Health; University College London 507387 other 30 Guilford Street, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH United Kingdom 2 Mar 30, 2020 criteria provided, single submitter clinical testing, research novel Likely pathogenic 2 2 0 0 0 van Oers lab; UT Southwestern Medical Center 507388 lab Na2.200, 6000 Harry Hines Blvd, Dallas, Texas, 75390-9093 United States 3 Apr 20, 2020 no assertion criteria provided clinical testing, in vitro, in vivo novel Pathogenic, Likely pathogenic 3 0 0 0 0 Medical Genetics Laboratory; DeNA Laboratory 507389 lab Tehran Iran 1 May 19, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Platelet Disorders/Laboratory of Genetics and Genomics; Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 507399 lab 3333 Burnet Ave, Cincinnati, Ohio, 45229 United States 1 Mar 27, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Department of Cardiology, Chinese Academy of Medical Sciences; Fuwai Hospital 507404 clinic Beilishi Road No. 167, Xicheng District, Beijing 100037, People's Republic of China, Beijing, Beijing, 100037 China 34 Jan 21, 2020 no assertion criteria provided clinical testing novel Uncertain significance, Benign, risk factor, protective 34 0 0 0 0 Laboratorio Genetica Umana; Istituto Giannina Gaslini 507405 lab Largom G.Gaslini, Genova, Liguria, 16147 Italy 3 Apr 27, 2020 no assertion criteria provided clinical testing novel Uncertain significance 3 0 0 0 0 Robert's Program; Boston Children's Hospital 507406 patient registry Boston, Massachusetts United States 2 Feb 01, 2020 criteria provided, single submitter research novel Pathogenic, Uncertain significance 0 2 0 0 0 Hongyan Wang Laboratory; Fudan University 507407 lab No. 2005, songhu Road, Yangpu District, Shanghai, Shanghai, Shanghai, 200438 China 5 Jan 16, 2020 no assertion criteria provided research novel Uncertain significance 0 5 0 0 0 Medical Genetics Laboratory; West China Hospital, Sichuan University 507415 lab Paragraph 3 South Road people, Chengdu, Sichuan, 610041 China 2 Feb 27, 2020 criteria provided, single submitter in vitro novel Pathogenic 0 0 0 0 0 Cardiology unit; Meyer University Hospital 507421 lab Florence, Toscana Italy 1 Jan 30, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Clinical Laboratory Sciences; Imam Abdulrahman Bin Faisal University 507424 lab King Faisal, Dammam, Ash Sharqiyah, 31144 Saudi Arabia 2 Apr 16, 2020 criteria provided, single submitter research novel risk factor, association 0 2 0 0 0 Medical Molecular Genetics; National Research Centre 507430 lab 33 Behoos Street, Cairo, Al Qahirah, 12622 Egypt 1 May 17, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Pediatrics Genetics; Postgraduate Institute of Medical Education and Research 507431 lab Sector-12, Chandigarh, Chandigarh, 160012 India 3 Apr 30, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Neuromuscular Department; Hannover Medical School 507440 clinic Hannover Germany 1 Feb 10, 2020 criteria provided, single submitter clinical testing novel Uncertain significance 1 0 0 0 0 NYU Undiagnosed Diseases Program; NYU School of Medicine 507443 lab New York City, New York United States 2 Mar 18, 2020 criteria provided, single submitter research novel Pathogenic 0 2 0 0 0 St George's Genomics Service; St George's University Hospitals NHS FT 507445 lab London, SW17 0RE United Kingdom 1 Mar 16, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 CeMIA 507447 lab 31 Str. Markrigianni, Larisa, Larisa, 41334 Greece 20 Feb 28, 2020 no assertion provided literature only novel not provided 0 0 20 0 0 Internal Medicine; University of Pretoria 507451 other Steve Biko Academic Hospital, Dr Savage Drive, Pretoria, Gauteng, 0001 South Africa 1 Apr 28, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Constantin Polychronakos Laboratory; The Research Institute of the McGill University Health Centre 507453 lab 1001 Decarie, Montreal, Quebec, H4A3J1 Canada 23 Jun 18, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 23 0 0 0 Molecular Genetics Laboratory; CHU Lille 507454 lab Lille France 2 Feb 12, 2020 no assertion criteria provided clinical testing novel Pathogenic, Uncertain significance 2 0 0 0 0 Centro de Biología Molecular Severo Ochoa; Universidad Autónoma de Madrid 507456 lab Calle Nicolás Cabrera, 1, Madrid, 28049 Spain 4 Feb 18, 2020 no assertion criteria provided research novel Pathogenic 0 4 0 0 0 Reproductive Endocrine Unit; Massachusetts General Hospital 507462 lab 55 Fruit St, BHX 519, Boston, Massachusetts United States 2 Feb 21, 2020 criteria provided, single submitter research novel Likely pathogenic 0 2 0 0 0 Shen Lab; Columbia University Medical Center 507466 lab 1130 St Nicholas Avenue, New York, New York, 10032 United States 22 Mar 23, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 22 0 0 0 Department of Pediatrics; The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 507472 clinic No. 109, Xueyuan Road (West), Luchen District, Wenzhou, Zhejiang, 325000 China 1 Apr 20, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Moosajee Lab; UCL Institute of Ophthalmology 507479 lab London, London, City of, EC1V 9EL United Kingdom 1 Mar 17, 2020 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Institute of Clinical Laboratory Science; Nanjing University Affiliated Jinling Hospital 507480 lab Nanjing, Jiangsu, 210000 China 1 Apr 20, 2020 no assertion criteria provided in vitro novel Pathogenic 0 0 0 0 0 Prenatal Diagnosis Center; Jiangxi Provincial Maternal and Child Care Hospital 507481 clinic Bayi Avenue 318, Nanchang, Jiangxi, 330006 China 1 Mar 27, 2020 criteria provided, single submitter clinical testing novel Uncertain significance 1 0 0 0 0 Center for Genetics and Inherited Diseases; Taibah University 507484 lab Almadinah Almunawwarah, 30001 Saudi Arabia 1 Mar 11, 2020 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Department of Medicine; University of Padua 507490 lab via G. Orus 2/B, Padova, Veneto, 35129 Italy 1 Apr 17, 2020 no assertion criteria provided clinical testing novel Uncertain significance 1 0 0 0 0 Biological Sciences; International Islamic University, Islamabad 507495 other Lab 302, Block C, sector H/10, Islambad, Islamabad, 44000 Pakistan 3 Mar 18, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic 3 0 0 0 0 Fondazione Telethon; Telethon Institute of Genetics and Medicine 507498 lab Via Campi Flegrei 34, Pozzuoli, Campania, 80078 Italy 15 Mar 25, 2020 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance 15 0 0 0 0 Cell and Molecular Biology Laboratory; University of the Punjab Lahore 507500 lab Canal Rd, Quaid-i-Azam Campus, Lahore, Punjab, LAHORE, Punjab, 54590 Pakistan 2 Mar 27, 2020 no assertion criteria provided case-control novel Uncertain significance, association 0 0 0 0 0 Pediatric Nephrology Laboratory; The University of Tokyo Hospital 507503 lab Tokyo Japan 7 Mar 16, 2020 criteria provided, single submitter clinical testing novel Pathogenic 7 0 0 0 0 Molecular Genetics laboratory; Necker Hospital 507504 lab 149 rue de Sevres, Paris, Ile-de-France, 75015 France 22 May 25, 2020 no assertion criteria provided clinical testing novel Pathogenic 22 0 0 0 0 Rajaie Cardiovascular, Medical and Research Center; Iran University of Medical Sciences 507505 other Tehran, Tehran Iran 1 May 02, 2020 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Pediatric Neurology; Rutgers New Jersey Medical School 507506 other Newark United States 1 Apr 02, 2020 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Geng Laboratory; The Second Hospital Affiliated to Xi’an Jiaotong University 507507 clinic Xi Wu Road, Xi'an, Shaanxi, 710004 China 2 May 04, 2020 criteria provided, single submitter clinical testing novel Uncertain significance 2 0 0 0 0 Thrombosis and Haemostasis Unit; Fondazione IRCCS "Casa Sollievo della Sofferenza" 507508 lab viale Padre Pio, San Giovanni Rotondo, 71013 Italy 1 Mar 23, 2020 no assertion criteria provided literature only novel Likely pathogenic 0 0 1 0 0 Laboratory of Genetics in Ophthalmology; Institut Imagine 507510 lab 24 bd du Montparnasse, Paris, Ile-de-France, 75015 France 23 May 07, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic, Uncertain significance 0 23 0 0 0 DeNA Laboratory; DeNA Laboratory 507513 lab Vali-asr, Tehran, Tehran, 1434875881 Iran 3 May 15, 2020 no assertion criteria provided clinical testing novel Likely pathogenic, Uncertain significance 3 0 0 0 0 School of Bio-Medicine; Mongolian National University of Medical Sciences 507519 lab Zorig street, Ulaanbaatar-14210, Mongolia, Ulaanbaatar, Ulaanbaatar, 14210 Mongolia 1 May 24, 2020 no assertion criteria provided clinical testing novel Likely pathogenic 1 0 0 0 0 Department of Pediatrics; University Hospital Center Zagreb 507523 clinic Kispaticeva 12, Zagreb, 10000 Croatia 1 Jun 03, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Godley laboratory; The University of Chicago 507524 lab 900 E 57th street, Chicago, Illinois, 60637 United States 17 Jun 10, 2020 criteria provided, single submitter clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 17 0 0 0 0 Research Laboratory of Human Genome and Multifactorial Diseases; Faculty of Pharmacy, University of Monastir 507525 lab Avicenne, Monastir Tunisia 2 Apr 24, 2020 no assertion criteria provided research novel Pathogenic 0 2 0 0 0 Fundacion Diagnosis 507526 other Antonio Varas 175 Oficina 302, Santiago, Region Metropolitana, 7500000 Chile 1 May 06, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Turvey Lab; BC Children's Hospital Research Institute 507530 lab Vancouver, British Columbia Canada 1 May 02, 2020 criteria provided, single submitter clinical testing, research novel Pathogenic 1 1 0 0 0 Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory; Koc University 507533 lab Koc University Hospital 5th Floor KUTTAM-NDAL, Istanbul, 34010 Turkey 171 Apr 15, 2020 criteria provided, single submitter case-control, research novel Pathogenic, Likely pathogenic, Uncertain significance, Likely benign, Benign 0 121 0 0 0 Inborn Errors of Metabolism; Hospital Clinic, IDIBAPS, CIBERER 507543 lab Mejia Lequerica s/n, Barcelona Spain 1 Apr 28, 2020 no assertion criteria provided research novel Likely pathogenic 0 1 0 0 0 Beijing Children’s hospital; National Center for Children’s Health 507545 clinic 56 Nanlishilu Road, Beijing, Beijing, 100045 China 1 May 02, 2020 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Unidad de Genetica; Hospital Roberto del Rio 507549 clinic Profesor Zañartu 1085, Independencia, Region Metropolitana, SANTIAGO, Region Metropolitana, 8380000 Chile 1 May 19, 2020 criteria provided, single submitter clinical testing novel Pathogenic 1 0 0 0 0 Institute for Pathophysiology; Universitaetsmedizin JGU Mainz 507550 lab Duesbergweg 6, MAINZ, 55128 Germany 2 May 07, 2020 no assertion criteria provided research novel Pathogenic, Likely pathogenic 0 2 0 0 0 Medical Genetics; CHU Nice 507557 lab 151 Route Saint-Antoine de Ginestière BP 3079, Nice, Provence-Alpes-Cote d'Azur, 06200 France 7 May 06, 2020 no assertion criteria provided in vitro novel Pathogenic, Likely pathogenic, Uncertain significance 0 0 0 0 0 MAGIC Laboratory; Stellenbosch University 507559 lab Francie van Zijl Drive, Cape Town, Western Cape, 7505 South Africa 1 May 04, 2020 criteria provided, single submitter research novel Likely pathogenic 0 1 0 0 0 Unit of Medical Genetics, Department of Laboratory Medicine; San Giovanni Calibita Fatebenefratelli Hospital 507560 lab Rome Italy 1 Jun 11, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Division of Biology and Genetics; University of Brescia 507568 lab Viale Europa 11, Brescia, Lombardia, 25127 Italy 1 May 21, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0 Ding PR Lab; Sun Yat-sen University Cancer Center 507574 lab 651 Dongfeng East Road, Guangzhou, 510060 China 52 May 07, 2020 no assertion criteria provided clinical testing novel Pathogenic, Likely pathogenic, Uncertain significance 52 0 0 0 0 Department of Transfusion Medicine; Fujian Provincial Hospital 507576 lab Dong, Fuzhou, Fujian, 350001 China 1 May 06, 2020 no assertion criteria provided clinical testing novel Pathogenic 1 0 0 0 0 Personalis, Inc. 507577 lab 1 Nov 20, 2014 no assertion criteria provided research novel Pathogenic 0 1 0 0 0 Turner Lab; Washington University in St. Louis 507596 lab 4523 Clayton Avenue, Campus Box 8232, St. Louis, Missouri, 63110 United States 1 May 22, 2020 criteria provided, single submitter research novel Pathogenic 0 1 0 0 0 Department of Pediatrics, Affiliated Hospital of Zunyi Medical College; Zunyi Medical College 507609 clinic Zunyi, Guizhou, 563003 China 1 Jun 10, 2020 criteria provided, single submitter clinical testing novel Likely pathogenic 1 0 0 0 0