ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4428C>T (p.Ile1476=)

dbSNP: rs754071010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455041 SCV001658783 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524914 SCV001734891 likely benign Cardiomyopathy 2021-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007057 SCV004831969 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-06-08 criteria provided, single submitter clinical testing

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