ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)

dbSNP: rs2080410736
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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 RCV001418778 SCV001621015 likely benign Lethal congenital glycogen storage disease of heart 2020-03-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006950 SCV004824484 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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