ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)

dbSNP: rs2536274957
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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 RCV003871710 SCV004683704 likely benign Lethal congenital glycogen storage disease of heart 2023-11-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006170 SCV004826270 likely benign Hypertrophic cardiomyopathy 2023-05-30 criteria provided, single submitter clinical testing

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