ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1707C>T (p.Asp569=)

dbSNP: rs201517977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188729 SCV001355863 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421946 SCV001624480 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402551 SCV002712228 likely benign Cardiovascular phenotype 2021-07-07 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 RCV004010301 SCV004816131 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2024-02-05 criteria provided, single submitter clinical testing

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