ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6939G>A (p.Glu2313=)

gnomAD frequency: 0.00001  dbSNP: rs1471693700
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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 RCV001184617 SCV001350641 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559867 SCV002980930 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008471 SCV004821705 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-02-24 criteria provided, single submitter clinical testing

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