ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3792T>C (p.Thr1264=)

dbSNP: rs766726853
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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 RCV002178026 SCV002343413 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434393 SCV004163051 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DSP: PM2:Supporting, BP4, BP7

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