ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5898G>A (p.Leu1966=)

dbSNP: rs1026631797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132572 SCV002437872 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-03-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005448 SCV004832566 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-06-26 criteria provided, single submitter clinical testing

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