ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)

gnomAD frequency: 0.00001  dbSNP: rs397517260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038903 SCV000062581 likely benign not specified 2009-03-24 criteria provided, single submitter clinical testing
Invitae RCV001400734 SCV001602542 likely benign Lethal congenital glycogen storage disease of heart 2023-12-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149637 SCV003837923 likely benign Cardiomyopathy 2021-11-26 criteria provided, single submitter clinical testing

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