ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) (rs146041189)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000311310 SCV000344018 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing
Invitae RCV001083614 SCV000626681 likely benign Glycogen storage disease type III 2020-11-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000311310 SCV001713830 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000311310 SCV001811458 likely benign not provided 2020-05-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001083614 SCV001454512 likely benign Glycogen storage disease type III 2020-09-16 no assertion criteria provided clinical testing

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