ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.681C>T (p.Ser227=)

gnomAD frequency: 0.00001  dbSNP: rs762263587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482518 SCV001686892 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524901 SCV001734872 likely benign Cardiomyopathy 2021-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001563424 SCV001786362 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007153 SCV004846495 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-06-08 criteria provided, single submitter clinical testing

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