ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2298-5T>C

dbSNP: rs969832224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188519 SCV001355591 likely benign Cardiomyopathy 2019-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560021 SCV003480563 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-10-05 criteria provided, single submitter clinical testing

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