ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1533G>A (p.Glu511=)

gnomAD frequency: 0.00001  dbSNP: rs754553761
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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 RCV001181221 SCV001346321 likely benign Cardiomyopathy 2019-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442725 SCV001645678 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-05-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006727 SCV004819558 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-05-31 criteria provided, single submitter clinical testing

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