The element to group each VariationArchive element in the release This element is restricted to variation records for which an explicit interpretation was submitted. Compare to IncludedRecord, which provides aggregate information about variants that are part of another submission, but for which ClinVar has *not* received a submission specific to that variant independently. Describes a single sequence change relative to a contiguous region of a chromosome or the mitochondrion. Describes multiple sequence changes on one of the chromosomes of a homologous pair or on the mitochondrion. Describes the combination of sequence changes on each chromosome of a homologous pair The aggregate review status based on all submissions for this record. Maintains the list of RCV accessions and their titles referencing the VariationID, in part to support indexing and retrieval for NCBI's web services. This structure does not report RCV/SCV relationships The number of submissions (SCV accessions) referencing the VariationID This element is used to report how each user-submitted trait name was mapped to a MedGen CUI identifier and a preferred name. The structure may be used in the future to report, when a trait is identified by a source's identifier (e.g. MIM number), the preferred name used by that source at the time of submission. For MappingType XRef, MappingRef is the database name and MappingValue is the database's identifier. For MappingType Name, MappingRef is Alternate or Preferred, and MappingValue is the submitted name of the trait. ClinicalAssertionID is an integer identifier that corresponds 1:1 to the SCV assigned to the submission. This element is used for alleles that were not directly part of a submission but were part of a complex submission. They have no direct submitted interpretation, but are being reported for a complete representation of all alleles in ClinVar. Compare to InterpretedRecord. Describes a single sequence change relative to a contiguous region of a chromosome or the mitochondrion. Maintains the list of SCV accessions and titles to support indexing and retrieval This structure does not report RCV/SCV relationships Maintains the list of interpreted variants represented in this submission, although not submitted with an interpretation independently. A structure to support reporting unformatted content, with type and source specified. A structure to represent an HGVS expression for a nucleotide sequence variant, along with the predicted protein change and the predicted molecular consequence. Also used to represent only the protein change if that is all that has been reported. This is a record of one or more simple alleles on the same chromosome molecule. The preferred representation of the haplotype. Names other than 'preferred' used for the haplotype. List of all the HGVS expressions valid for, or used to submit, a variant. Other names used for the haplotype The attribute is a general element to represent a defined set of data qualified by an enumerated set of types. For each attribute element, the value will be a character string and is optional. Source shall be used to store identifiers for supplied data from source other than the submitter (e.g. SequenceOntology). The data submitted where Type="variation" shall be validated against sequence_alternation in Sequence Ontology http://www.sequenceontology.org/. This is to be a generic version of AttributeType and should be used with extension when it is used to specify Type and its enumerations. This is to be used within co-occurrence set There can be multiple types of location, and the locations may have identifiers in other databases Cytogenetic location is maintained independent of sequence location, and can be submitted or computed from the sequence location Location on a defined sequence, with reference and alternate allele, and start /stop values depending on the specificity with which the variant location is known. The number system of offset 1, and right-justified to be consistent with HGVS location data The location of the variant relative to features within the gene This is a record per variant (Measure/@ID,AlleleID) 0 to many genes (and related data ) related to the allele being reported. Used to set key words for retrieval or display about a gene, such as genes listed by the ACMG guidelines. calculated or submitted These are the single-letter representations of the protein change. Variant call calculated by dbSNP to be suspect because of paralogy This is a record per variant (Measure/@ID,AlleleID) as submitted for accessioning in an SCV 0 to many genes (and related data ) related to the allele being reported. Used to set key words for retrieval or display about a gene, such as genes listed by the ACMG guidelines. Used for gene specific identifiers such as MIM number, Gene ID, HGNC ID, etc. Name provided by the submitter. Single letter representation of the amino acid change and its location. Currently redundant with the MolecularConsequence element of the HGVS element? Used to report genotypes, be they simple or complex diplotypes. Describes a single sequence change relative to a contiguous region of a chromosome or the mitochondrion. Allow more than 2 haplotypes per genotype to support representation of ploidy. This structure is used to represent how an object described in the submission relates to objects in other databases. The name of the database. When there is an overlap with sequence databases, that name is used. The identifier used by the database. Being exported as a string even though internally the database has rules for defining which datases use integer identifers. Used to differentiate between different types of identifiers that a database may provide. A structure to support reporting the name of a submitter, its organization id, and its abbreviation and type Method of data capture, not method of evaluation. If there is an identifier, what database provides it. This maintained distinct from publication types in PubMed and established by GTR curators. The default is 'general'. Corresponds to the abbreviation reported by GTR. The set of descriptors and values for person-specific phenotype information. Type is used to separate biochemical tests from clinical features with attributes. The indication may be a set of phenotypic descriptions. Denominator, total individuals included in this observation set. Denominator, total males included in this observation set. Denominator, total females included in this observation set. Denominator, total number chromosomes tested. Number affected and unaffected are captured in the element NumberObserved. Gender should be used ONLY if explicit values are not available for number of males or females, and there is a need to indicate that the genders in the sample are known. Structure to describe attributes of any family data in an observation. If the details of the number of families and the de-identified pedigree id are not available, use FamilyHistory to describe what type of family data is available. Can also be used to report 'Yes' or 'No' if there are no more details. We are not providing an enumeration for the values we report for clinical significance within the xsd. The values are maintained here: ftp://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Clinical_significance.txt. Explanation is used only when the description is 'conflicting data from submitters' The element summarizes the conflict. Used to bundle different types of interpretation (benign , somatic??) ; Clinical significance with assertion criteria, clinical significance without, reported effects, other. Supports summary as well as submission details This element groups the set of data specific to a VariationArchive record, namely the summary data of what has been submitted about a VariationID AND for Interpreted records only, the content each submission (SCV) provided. The list of VCV accessions this record has replaced. This element describes the interpretation of a single allele, haplotype, or genotype based on all submissions to ClinVar. This differs from the element IncludedRecord, which describes simple alleles or haplotypes, referenced in InterpretedRecord, but for which no explicit interpretation was submitted. Once that variation is described, details are added about the phenotypes being interpreted, the intepretation, the submitters providing the intepretations, and all supported evidence. This element describes a single allele or haplotype included in submissions to ClinVar, but for which no explicit interpretation was submitted. It also references the submissions and the Interpreted records that include them. This is ClinVar's name for the variant. ClinVar uses this term in its web displays. Retained as a separate element for internal use by ClinVar. This refers to the zygosity of the variant being asserted. A structure to support reporting of an accession, its version, the date it was deleted and a free-text summary of why it was deleted. The identifier provided by the submitter to facilitate identification of records corresponding to their submissions. If not provided by a submitter, NCBI generates one. If provided by submitter, that is represented in localKeyIsSubmitted. RCV accessions aggregate data from each submission. Each submission is assigned an accession of beginning with 'SCV' Optional element used only if there are multiple submitters. When there are multiple, each is listed in this element. Used to represent the scoring matrix a submitter may use to evaluate clinical signficance. AttributeSet is a package to represent a unit of information, the source(s) of that unit, identifiers representing that unit, and comments. DateCreated is when ClinVar processed the submission and created the records. A modification date is independent of a version change. Content generated by NCBI may change without representing a change in the version. SubmissionDate is when ClinVar received the submission. Details of a method used to generate variant calls or predict/report functional consequence. The name of the platform should represent a sequencer or an array, e.g. sequencing or array , e.g. capillary, 454, Helicos, Solexa, SOLiD. This structure should also be used if the method is 'Curation'. Free text to enrich the description of the method and to provide information not captured in specific fields. ObsMethodAttribute is used to indicate an attribute specific to a particular method in conjunction with a particular observation . Documents in what populations or samples an allele or genotype has been observed relative to the described trait. Summary observations can be registered per submitted assertion, grouped by common citation, study type, origin, ethnicity, tissue, cell line, and species data. Not all options are valid per study type, but these will not be validated in the xsd. This is an AttributeSet, there will be 1 attribute supported by optional citations, xrefs and comment. There must be at least one ObservedData Set, but can be any number. For each ObservedData set the Attribute will be either decimal or string depending on type. The value will be stored here, but decimals will be entered to the database as a string. Set of attributes for the primary submitter. Any addtional submitters are captured in the AdditionalSubmitters element Represents the value for the test indication as a name of a trait. We are not providing an enumeration for the values we report for clinical significance within the xsd. The values are maintained here: ftp://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Clinical_significance.txt. Explanation is used only when the description is 'conflicting data from submitters' The element summarizes the conflict. A structure to support reporting of an accession, its version, the date its status changed, and text describing that change. Used to report genotypes, be they simple or complex diplotypes. Allows more than 2 haplotypes per genotype to support representation of ploidy.