ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1267-10A>C

dbSNP: rs2113674080
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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 RCV002198905 SCV002492281 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808231 SCV005428815 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-06-09 criteria provided, single submitter clinical testing

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