ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3228G>A (p.Val1076=)

gnomAD frequency: 0.00003  dbSNP: rs373966845
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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 RCV000549438 SCV000641982 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-10-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180364 SCV001345283 likely benign Cardiomyopathy 2019-04-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999238 SCV004819978 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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