ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4950C>G (p.Thr1650=)

gnomAD frequency: 0.00001  dbSNP: rs948524246
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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 RCV001183259 SCV001348943 likely benign Cardiomyopathy 2018-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001503679 SCV001708537 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-06-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008363 SCV004826274 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-07-10 criteria provided, single submitter clinical testing

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