ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2391C>T (p.Ala797=)

dbSNP: rs767494597
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276337 SCV000333841 uncertain significance not provided 2015-08-04 criteria provided, single submitter clinical testing
Invitae RCV001393526 SCV001595192 likely benign Glycogen storage disease, type II 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001393526 SCV001810190 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165725 SCV003857456 likely benign Cardiovascular phenotype 2022-11-20 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.
PreventionGenetics, part of Exact Sciences RCV003982981 SCV004800152 likely benign GAA-related condition 2022-01-09 criteria provided, single submitter 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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