ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)

dbSNP: rs1395644069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177098 SCV001341232 likely benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400711 SCV001602518 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-11-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006357 SCV004845958 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649473 SCV005155376 likely benign Cardiovascular phenotype 2024-04-04 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.

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