ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)

dbSNP: rs587783901
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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 RCV000146542 SCV000193837 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512063 SCV002821289 pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing NIPBL: PVS1, PS2, PM2
GeneDx RCV002512063 SCV003842906 pathogenic not provided 2022-09-19 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 23505322, 19242925, 24218399, 17661813, 24863959, 15318302, 16606884, 24038889)

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