ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2826A>G (p.Thr942=)

dbSNP: rs2073307712
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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 RCV001181005 SCV001346058 likely benign Cardiomyopathy 2020-02-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006710 SCV004821843 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093838 SCV005801212 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-02-25 criteria provided, single submitter clinical testing

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