ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1438-9T>C

gnomAD frequency: 0.00002  dbSNP: rs771451875
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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 RCV001184670 SCV001350706 likely benign Cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093900 SCV005813436 likely benign Lethal congenital glycogen storage disease of heart 2024-11-24 criteria provided, single submitter clinical testing

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