ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.600G>A (p.Val200=)

gnomAD frequency: 0.00002  dbSNP: rs781305034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620486 SCV000737972 likely benign Cardiovascular phenotype 2017-04-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000875860 SCV001018337 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181327 SCV001346448 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002690 SCV004846501 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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