ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.423-11T>A

dbSNP: rs1758598034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185045 SCV001351175 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559885 SCV003519868 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-04-20 criteria provided, single submitter clinical testing

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