ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.846C>T (p.Val282=)

dbSNP: rs1563213791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774231 SCV000907932 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061087 SCV002390537 likely benign Lethal congenital glycogen storage disease of heart 2022-05-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001370 SCV004842243 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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