ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)

gnomAD frequency: 0.00193  dbSNP: rs147165298
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272436 SCV000332077 benign not specified 2015-06-10 criteria provided, single submitter clinical testing
Invitae RCV000533130 SCV000626720 benign Glycogen storage disease type III 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001540741 SCV001758659 likely benign not provided 2020-03-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000533130 SCV002055066 benign Glycogen storage disease type III 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001540741 SCV004185029 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing AGL: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003955425 SCV004780141 likely benign AGL-related condition 2019-08-15 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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