ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1005+8G>C

dbSNP: rs1245068890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434485 SCV001637292 likely benign Lethal congenital glycogen storage disease of heart 2023-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000946127 SCV001907745 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000946127 SCV003799685 likely benign not provided 2022-05-06 criteria provided, single submitter clinical testing

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