ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.588G>A (p.Arg196=)

gnomAD frequency: 0.00001  dbSNP: rs754666224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105339 SCV002399092 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-02-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533119 SCV004363271 likely benign Cardiomyopathy 2022-09-27 criteria provided, single submitter clinical testing

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