ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.15C>T (p.Gly5=)

dbSNP: rs1390632513
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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 RCV001228615 SCV001401022 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-12-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525592 SCV001735756 likely benign Cardiomyopathy 2020-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004824 SCV004844483 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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