ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)

gnomAD frequency: 0.00001  dbSNP: rs149820808
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870268 SCV001011758 likely benign Lethal congenital glycogen storage disease of heart 2023-02-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180676 SCV001345671 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363261 SCV002659058 likely benign Cardiovascular phenotype 2022-04-09 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 RCV004003059 SCV004842259 likely benign Hypertrophic cardiomyopathy 2023-07-10 criteria provided, single submitter clinical testing

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