ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.717C>T (p.Asn239=)

gnomAD frequency: 0.00001  dbSNP: rs768598370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184890 SCV001350978 likely benign Cardiomyopathy 2019-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093905 SCV005814272 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-09-17 criteria provided, single submitter clinical testing

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