ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)

dbSNP: rs587781126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607383 SCV000729305 likely benign not specified 2017-12-05 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170704 SCV001333298 likely benign Cardiomyopathy 2019-03-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170704 SCV001358001 likely benign Cardiomyopathy 2019-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487498 SCV001691987 likely benign Lethal congenital glycogen storage disease of heart 2023-12-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002607 SCV004842267 likely benign Hypertrophic cardiomyopathy 2023-06-28 criteria provided, single submitter clinical testing

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