ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.240C>G (p.Gly80=)

dbSNP: rs142482217
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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 RCV002074896 SCV002430100 likely benign Lethal congenital glycogen storage disease of heart 2023-03-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808213 SCV005429745 likely benign Hypertrophic cardiomyopathy 2024-02-22 criteria provided, single submitter clinical testing

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