ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.492C>T (p.Ser164=)

gnomAD frequency: 0.00001  dbSNP: rs747582030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440780 SCV001643693 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-05-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007014 SCV004827217 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-07-10 criteria provided, single submitter clinical testing

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