ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.99G>A (p.Leu33=)

gnomAD frequency: 0.00001  dbSNP: rs1039938289
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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 RCV002544580 SCV001087593 likely benign Lethal congenital glycogen storage disease of heart 2022-04-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004314 SCV004829888 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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