ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7947G>A (p.Arg2649=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003792105 SCV004588272 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-26 criteria provided, single submitter clinical testing

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