ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter)

dbSNP: rs62654864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146647 SCV000193956 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV004721275 SCV005328332 pathogenic not provided 2024-03-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37377026, 33502061)

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