ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)

dbSNP: rs748041666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000885 SCV001157967 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860499 SCV002131337 likely benign Lethal congenital glycogen storage disease of heart 2021-04-02 criteria provided, single submitter clinical testing

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