ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met)

dbSNP: rs587784057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146742 SCV000194061 uncertain significance Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001753523 SCV001997406 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000146742 SCV002055954 uncertain significance Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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