ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.685-19TCC[5]

dbSNP: rs1265462032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191973 SCV001359916 likely benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003507367 SCV004282276 likely benign Lethal congenital glycogen storage disease of heart 2023-07-11 criteria provided, single submitter clinical testing

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