ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.561T>C (p.Asp187=)

gnomAD frequency: 0.00001  dbSNP: rs573318445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449426 SCV001652542 likely benign Arrhythmogenic right ventricular dysplasia 10 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160813 SCV003856006 likely benign Cardiovascular phenotype 2023-02-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV004808056 SCV005427577 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing

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