ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.996G>A (p.Leu332=)

gnomAD frequency: 0.00009  dbSNP: rs144574595
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703666 SCV000520777 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771987 SCV000904942 likely benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864581 SCV001005401 likely benign Arrhythmogenic right ventricular dysplasia 9 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379320 SCV002688888 likely benign Cardiovascular phenotype 2019-08-16 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 RCV004000341 SCV004846443 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001703666 SCV005216618 likely benign not provided criteria provided, single submitter not provided

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