ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)

dbSNP: rs587783977
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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 RCV000146646 SCV000193955 likely pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV004815206 SCV005439726 likely pathogenic not provided 2024-06-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 38284454)
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand RCV000146646 SCV002552105 likely pathogenic Cornelia de Lange syndrome 1 no assertion criteria provided research

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