ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5589C>T (p.Asp1863=)

gnomAD frequency: 0.00001  dbSNP: rs751379396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187641 SCV001354494 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560911 SCV003271925 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008725 SCV004832467 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-05-04 criteria provided, single submitter clinical testing

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