ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)

dbSNP: rs905404609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180657 SCV001345650 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV001305764 SCV001495111 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393407 SCV002698445 likely benign Cardiovascular phenotype 2022-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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