ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)

gnomAD frequency: 0.00001  dbSNP: rs753226330
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589049 SCV000698473 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000640034 SCV000761622 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-12-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772490 SCV000905669 likely benign Cardiomyopathy 2018-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001683599 SCV001903788 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448825 SCV002732660 likely benign Cardiovascular phenotype 2020-01-16 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 RCV004002442 SCV004845921 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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