ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.685-8C>T

dbSNP: rs397517279
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Total submissions: 2
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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 RCV000038954 SCV000062632 likely benign not specified 2010-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054724 SCV002492224 likely benign Lethal congenital glycogen storage disease of heart 2022-03-08 criteria provided, single submitter clinical testing

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