ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.813A>G (p.Val271=)

gnomAD frequency: 0.00001  dbSNP: rs769992634
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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 RCV001181199 SCV001346299 likely benign Cardiomyopathy 2019-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504687 SCV001709573 likely benign Arrhythmogenic right ventricular dysplasia 10 2019-07-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006723 SCV004819476 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-08-08 criteria provided, single submitter clinical testing

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