ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6871T>C (p.Leu2291=)

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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 RCV002595195 SCV003493331 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-08 criteria provided, single submitter clinical testing

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