ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.405C>T (p.Ser135=)

gnomAD frequency: 0.00001  dbSNP: rs775423741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183261 SCV001348945 likely benign Cardiomyopathy 2018-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001464318 SCV001668284 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320409 SCV002626390 likely benign Cardiovascular phenotype 2022-04-04 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.
All of Us Research Program, National Institutes of Health RCV004008364 SCV004846537 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing

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