ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8235A>G (p.Ile2745Met)

gnomAD frequency: 0.00001  dbSNP: rs768893360
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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 RCV001216574 SCV001388377 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-03-22 criteria provided, single submitter clinical testing

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