ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1548T>C (p.Thr516=)

dbSNP: rs2073230585
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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 RCV001191784 SCV001359684 likely benign Cardiomyopathy 2019-03-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807453 SCV005428706 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005057071 SCV005708231 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-04-25 criteria provided, single submitter clinical testing

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