ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8490C>A (p.Arg2830=)

dbSNP: rs1221382084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183808 SCV002478961 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331327 SCV004038140 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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