ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.789G>A (p.Thr263=)

gnomAD frequency: 0.00004  dbSNP: rs760432217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000589912 SCV000229048 uncertain significance not provided 2015-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855623 SCV000698479 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454579 SCV001658311 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415761 SCV002676892 likely benign Cardiovascular phenotype 2019-11-19 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 RCV003995688 SCV004825912 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing

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