Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146614 | SCV000193917 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000146614 | SCV000657496 | pathogenic | Cornelia de Lange syndrome 1 | 2016-08-24 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NIPBL are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Cornelia de Lange syndrome (PMID: 17106445). This sequence change creates a premature translational stop signal at codon 1531 (p.Tyr1531*) of the NIPBL gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000146614 | SCV002054149 | pathogenic | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing |