ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.778-9C>T

gnomAD frequency: 0.00001  dbSNP: rs773949949
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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 RCV001805602 SCV002053532 likely benign Cardiomyopathy 2021-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074204 SCV002387713 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-03-03 criteria provided, single submitter clinical testing

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