ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)

dbSNP: rs2151134561
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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 RCV001500827 SCV001705627 likely benign Lethal congenital glycogen storage disease of heart 2020-03-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533001 SCV004359751 likely benign Cardiomyopathy 2023-04-17 criteria provided, single submitter clinical testing

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