ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.261A>G (p.Gln87=)

gnomAD frequency: 0.00005  dbSNP: rs370304606
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421179 SCV000533581 likely benign not specified 2016-11-01 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 RCV000535859 SCV000626703 likely benign Glycogen storage disease type III 2024-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000535859 SCV002055516 likely benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970228 SCV004782244 likely benign AGL-related condition 2023-10-11 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).
Natera, Inc. RCV000535859 SCV001452900 uncertain significance Glycogen storage disease type III 2020-01-17 no assertion criteria provided clinical testing

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