ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)

dbSNP: rs587784022
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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 RCV000146701 SCV000194016 pathogenic Cornelia de Lange syndrome 1 2013-02-19 criteria provided, single submitter clinical testing
GeneDx RCV001564728 SCV001787935 pathogenic not provided 2024-12-14 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid(s) in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15591270, 28425213, 24038889, 20824775, 16770807, 37377026, 35904121, 36041635, 23254390)
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University RCV000146701 SCV003838976 likely pathogenic Cornelia de Lange syndrome 1 no assertion criteria provided clinical testing

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