ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5329-15A>G (rs587783968)

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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 RCV000146635 SCV000193941 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000795862 SCV000935340 pathogenic Cornelia de Lange syndrome 1 2019-12-31 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the NIPBL gene. It does not directly change the encoded amino acid sequence of the NIPBL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with Cornelia de Lange syndrome (PMID: 26925417, 26701315). ClinVar contains an entry for this variant (Variation ID: 159142). Experimental studies have shown that this change results in skipping of exon 28 of the NIPBL gene (PMID: 26925417, 26701315). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000795862 SCV001192590 pathogenic Cornelia de Lange syndrome 1 2019-06-25 no assertion criteria provided clinical testing

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