ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)

dbSNP: rs145029525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000641193 SCV000519141 likely benign not provided 2019-10-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770264 SCV000901696 likely benign Cardiomyopathy 2017-07-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770264 SCV001353518 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001402284 SCV001604129 likely benign Lethal congenital glycogen storage disease of heart 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374648 SCV002684785 likely benign Cardiovascular phenotype 2021-03-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000641193 SCV004156983 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PRKAG2: BP4, BP7

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