ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.754+13dup

dbSNP: rs747490039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485644 SCV000568964 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002063716 SCV002405706 benign Lethal congenital glycogen storage disease of heart 2024-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150238 SCV003837925 uncertain significance Cardiomyopathy 2022-03-01 criteria provided, single submitter clinical testing

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