ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)

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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 RCV002659021 SCV002983558 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-08-25 criteria provided, single submitter clinical testing

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