ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5172G>C (p.Leu1724=)

dbSNP: rs2113695733
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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 RCV001472261 SCV001676390 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-08-20 criteria provided, single submitter clinical testing

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