ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.236T>A (p.Val79Glu)

dbSNP: rs886044603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356383 SCV000345639 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000356383 SCV001777680 likely pathogenic not provided 2022-01-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD)

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