ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2608C>A (p.Arg870=)

dbSNP: rs780321415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480556 SCV001684876 likely benign Glycogen storage disease, type II 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439148 SCV002745211 likely benign Cardiovascular phenotype 2019-06-09 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.

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