ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1998C>T (p.Asp666=)

dbSNP: rs1012080257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001804403 SCV002052745 likely benign Cardiomyopathy 2021-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541401 SCV003031044 likely benign Arrhythmogenic right ventricular dysplasia 10 2022-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996012 SCV005575767 likely benign Cardiovascular phenotype 2024-08-31 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.

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