ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1107-7C>T

gnomAD frequency: 0.00002  dbSNP: rs775881497
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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 RCV001181465 SCV001346609 likely benign Cardiomyopathy 2019-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482718 SCV001687093 likely benign Lethal congenital glycogen storage disease of heart 2022-07-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006740 SCV004834961 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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