ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)

dbSNP: rs766498974
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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 RCV001175672 SCV001339361 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
Invitae RCV002555446 SCV003255988 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-07-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000291 SCV004845976 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-10-02 criteria provided, single submitter clinical testing

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