ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.720A>G (p.Glu240=)

gnomAD frequency: 0.00001  dbSNP: rs756024562
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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 RCV001179958 SCV001344768 likely benign Cardiomyopathy 2019-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001875962 SCV002181903 likely benign Arrhythmogenic right ventricular dysplasia 10 2022-11-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807349 SCV005428683 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-05-09 criteria provided, single submitter clinical testing

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