ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.927C>T (p.Ala309=)

gnomAD frequency: 0.00007  dbSNP: rs200152448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437076 SCV000516608 benign not specified 2015-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000772008 SCV000904964 likely benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001393907 SCV001595584 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-10-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996025 SCV004846465 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649149 SCV005155369 likely benign Cardiovascular phenotype 2024-05-02 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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