FIRST NAME LASTNAME EGL Emory Genetics Laboratory Emory University School of Medicine lab 500060 Emory Genetics Laboratory Emory University School of Medicine lab ADDRESS STUFF Decatur GA 30033 United States EMAIL HERE PHONE HERE Madhuri Hegde mhegde@emory.edu 404-727-3863 EMAIL HERE PHONE HERE novel public variation to disease criteria provided, single submitter Uncertain significance 2012-07-16 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Ile364Thr Location NM_000016.4:Ex11 HGVS NM_000016.4:c.1091T>C rsNumber 150710061 variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter Pathogenic 2012-11-08 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:Ex11 HGVS NM_000016.4:c.1102_1105delTTAG variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter no known pathogenicity 2012-10-24 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.(=) Location NM_000016.4:Ex11 HGVS NM_000016.4:c.1161A>G rsNumber 1061337 variant in gene Preferred ACADM Disease Disease Preferred AllHighlyPenetrant novel public variation to disease criteria provided, single submitter Uncertain significance 2012-10-29 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Glu40Gln Location NM_000016.4:Ex2 HGVS NM_000016.4:c.118G>C variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter no known pathogenicity 2013-01-24 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:IVS2 HGVS NM_000016.4:c.119-20T>C rsNumber 74090724 variant in gene Preferred ACADM Disease Disease Preferred AllHighlyPenetrant novel public variation to disease criteria provided, single submitter Pathogenic 2012-08-06 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Glu43Lys Location NM_000016.4:Ex3 HGVS NM_000016.4:c.127G>A rsNumber 147559466 variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter Pathogenic 2012-11-16 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Arg53Cys Location NM_000016.4:Ex3 HGVS NM_000016.4:c.157C>T variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter no known pathogenicity 2012-11-08 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:IVS3 HGVS NM_000016.4:c.216+10T>C rsNumber 2275378 variant in gene Preferred ACADM Disease Disease Preferred AllHighlyPenetrant novel public variation to disease criteria provided, single submitter Pathogenic 2012-11-01 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:IVS3 HGVS NM_000016.4:c.216+2T>G variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter Pathogenic 2013-10-18 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Ile78Thr Location NM_000016.4:Ex4 HGVS NM_000016.4:c.233T>C variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter Uncertain significance 2013-03-27 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.Gly85Ser Location NM_000016.4:Ex4 HGVS NM_000016.4:c.253G>A variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter no known pathogenicity 2013-01-24 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Alternate NP_000007.1:p.(=) Location NM_000016.4:Ex5 HGVS NM_000016.4:c.351A>C rsNumber 74090726 variant in gene Preferred ACADM Disease Disease Preferred AllHighlyPenetrant novel public variation to disease criteria provided, single submitter Uncertain significance 2013-03-04 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:IVS5 HGVS NM_000016.4:c.388-12_388-10delTTT variant in gene Preferred ACADM Disease Disease Preferred not provided novel public variation to disease criteria provided, single submitter Uncertain significance 2013-03-08 http://genetics.emory.edu/egl/emvclass/emvclass.php?approved_symbol=ACADM germline human unknown mixed http://genetics.emory.edu/egl/tests/view.php?testid=78 clinical testing Description not provided Variant Variation Location NM_000016.4:IVS6 HGVS NM_000016.4:c.468+7A>T variant in gene Preferred ACADM Disease Disease Preferred not provided