ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4470C>T (p.Ile1490=)

gnomAD frequency: 0.00001  dbSNP: rs1759402221
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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 RCV002139907 SCV002454524 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-24 criteria provided, single submitter clinical testing

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