ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu)

dbSNP: rs913431577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262758 SCV001440741 uncertain significance Intellectual disability, X-linked 49 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001751528 SCV001986503 uncertain significance not provided 2018-08-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); 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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