ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1006-9dup

dbSNP: rs775574266
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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 RCV001175952 SCV001339764 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067873 SCV002480596 benign Lethal congenital glycogen storage disease of heart 2024-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538400 SCV004714944 likely benign PRKAG2-related disorder 2021-03-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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