ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser) (rs1057520810)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703585 SCV000518112 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; 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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