ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.56C>T (p.Ala19Val)

dbSNP: rs886043988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349364 SCV000342905 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000349364 SCV002005277 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002487258 SCV002775984 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2022-05-19 criteria provided, single submitter clinical testing

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