ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.955C>T (p.Leu319=)

dbSNP: rs777852039
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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 RCV001494476 SCV001699134 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007186 SCV004818538 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-05-04 criteria provided, single submitter clinical testing

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