ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.755-8T>C

dbSNP: rs1814254922
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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 RCV001181755 SCV001346957 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093847 SCV005771805 likely benign Lethal congenital glycogen storage disease of heart 2024-07-03 criteria provided, single submitter clinical testing

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