Definitions of properties of ClinVar records

Recurrent concepts in ClinVar are captured as properties. These properties are created to facilitate finding data chararacterized by standard values. For example, to find all genetic variants with at least one report that indicates it is pathogenic, you can use the "clinsig pathogenic" property. Try some of the examples below.

Term used Description Example
clinsig benign The variant is reported to be benign. Try it!
clinsig drug response The variant is reported to affect a drug response. Try it!
clinsig has conflicts The variant has conflicting clinical assertions from different submitters. Try it!
clinsig likely benign The variant is reported to be likely benign. Try it!
clinsig likely pathogenic The variant is reported to be likely pathogenic. Try it!
clinsig not provided Clinical significance for the variant has not be provided by the submitter. Try it!
clinsig other The variant has some other clinical significance, such as protective, association, confers sensitivity. Try it!
clinsig pathogenic The variant is reported to be pathogenic. Try it!
clinsig risk factor The variant is reported to be a risk factor for a particular disease. Try it!
clinsig vus The variant is of unknown clinical significance. Try it!
gene acmg incidental 2013 Variants identified in genes on the list ACMG published in 2013. Try it!
gene asserted not computed Variants reported to be in a gene, but NCBI did not compute the same gene-variant relationship. This includes variants that are not localized on the genome so we cannot compute the gene. Try it!
in overlapping genes Variants that are in multiple genes because the genes overlap on the genome. Try it!
moi autosomal dominant Diseases with an autosomal dominant mode of inheritance. Try it!
moi autosomal recessive Diseases with an autosomal recessive mode of inheritance. Try it!
moi autosomal unknown Diseases with a mode of inheritance that is only known to be autosomal. Try it!
moi mitochondrial Diseases with a mitochondrial mode of inheritance. Try it!
moi other Diseases with a mode of inheritance not listed here. Try it!
moi sex-limited autosomal dominant Diseases with a sex-limited autosomal dominant mode of inheritance. Try it!
moi sporadic Diseases with a sporadic mode of inheritance. Try it!
moi X-linked recessive Diseases with an X-linked recessive mode of inheritance. Try it!
moi X-linked dominant Diseases with an X-linked dominant mode of inheritance. Try it!
multiple gene Variants that include or overlap multiple genes. Try it!
origin biparental Variants that are biparental in origin. Try it!
origin de novo Variants that ofde novoorigin. Try it!
origin germline Variants that are germline in origin. Try it!
origin inherited Variants that are inherited. Try it!
origin maternal Variants that are maternal in origin. Try it!
origin not provided Variants for which an origin was not provided. Try it!
origin paternal Variants that are paternal in origin. Try it!
origin somatic Variants that are somatic in origin. Try it!
origin unknown Variants that of unknown origin. Try it!
origin uniparental Variants that are uniparental in origin. Try it!
single gene Variants that are within or contain a single gene Try it!
spans multiple genes Variants that include multiple genes, e.g. a CNV that spans many genes. Try it!

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Last updated: 2018-05-31T17:22:38Z