ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.965C>T (p.Thr322Ile)

gnomAD frequency: 0.00001  dbSNP: rs1191243277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758180 SCV001985712 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); 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

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