ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.467-15G>A

gnomAD frequency: 0.00001  dbSNP: rs139162723
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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 RCV001805730 SCV002051924 likely benign Cardiomyopathy 2021-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772254 SCV004685189 likely benign Lethal congenital glycogen storage disease of heart 2024-01-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009158 SCV004831487 likely benign Hypertrophic cardiomyopathy 2023-06-26 criteria provided, single submitter clinical testing

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