ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2442C>T (p.Cys814=)

gnomAD frequency: 0.00001  dbSNP: rs1394059699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189009 SCV001356202 likely benign Cardiomyopathy 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001587209 SCV001814755 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003770126 SCV004612811 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-11-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010325 SCV004821799 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-03-24 criteria provided, single submitter clinical testing

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