ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)

gnomAD frequency: 0.00003  dbSNP: rs147365679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870073 SCV001011545 likely benign Lethal congenital glycogen storage disease of heart 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525473 SCV001735598 likely benign Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
GeneDx RCV001553271 SCV001774115 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454001 SCV002614764 likely benign Cardiovascular phenotype 2018-08-25 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 RCV004003057 SCV004842309 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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