ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7470T>C (p.Tyr2490=)

gnomAD frequency: 0.00001  dbSNP: rs372896350
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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 RCV001179990 SCV001344800 likely benign Cardiomyopathy 2020-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558932 SCV003488737 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-03-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006618 SCV004827361 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-07-22 criteria provided, single submitter clinical testing

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