ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)

dbSNP: rs1563132006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770257 SCV000901689 uncertain significance Cardiomyopathy 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533958 SCV003253172 likely benign Lethal congenital glycogen storage disease of heart 2021-12-18 criteria provided, single submitter clinical testing

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