ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.864+20A>G

gnomAD frequency: 0.00006  dbSNP: rs370643442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002101059 SCV002398503 likely benign Lethal congenital glycogen storage disease of heart 2024-12-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405836 SCV006068261 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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