ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.213C>T (p.Ser71=)

gnomAD frequency: 0.00004  dbSNP: rs1173618581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551188 SCV000638884 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178614 SCV001343100 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001537291 SCV001754156 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431606 SCV002730263 likely benign Cardiovascular phenotype 2018-08-29 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 RCV003999144 SCV004844466 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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