ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)

dbSNP: rs1057522970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441122 SCV000530185 likely benign not specified 2016-07-27 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 RCV003532113 SCV004359774 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766348 SCV004685049 likely benign Lethal congenital glycogen storage disease of heart 2024-08-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000490 SCV004815781 likely benign Hypertrophic cardiomyopathy 2023-08-28 criteria provided, single submitter clinical testing

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