ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2168-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1227875716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186414 SCV001352816 likely benign Cardiomyopathy 2019-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770081 SCV004677876 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-09-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008601 SCV004823462 likely benign Arrhythmogenic right ventricular cardiomyopathy 2022-11-30 criteria provided, single submitter clinical testing

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