ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)

dbSNP: rs1258497596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448617 SCV001651713 likely benign Lethal congenital glycogen storage disease of heart 2020-07-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532988 SCV004359733 likely benign Cardiomyopathy 2022-05-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007045 SCV004842198 likely benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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