ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7449C>T (p.Tyr2483=)

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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 RCV005220303 SCV005860553 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-03 criteria provided, single submitter clinical testing

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