ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)

gnomAD frequency: 0.00001  dbSNP: rs781419827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466927 SCV000561693 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-01-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183506 SCV001349255 likely benign Cardiomyopathy 2019-01-28 criteria provided, single submitter clinical testing
GeneDx RCV002244946 SCV002513558 likely benign not provided 2022-05-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002418474 SCV002717863 likely benign Cardiovascular phenotype 2020-04-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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