ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1137C>T (p.His379=)

gnomAD frequency: 0.00005  dbSNP: rs754927123
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179670 SCV001344380 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478490 SCV001682761 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001673029 SCV001882826 benign not provided 2015-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320399 SCV002605649 likely benign Cardiovascular phenotype 2019-06-29 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 RCV004006589 SCV004846427 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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