Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146724 | SCV000194042 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003415976 | SCV004109088 | uncertain significance | NIPBL-related condition | 2023-05-02 | criteria provided, single submitter | clinical testing | The NIPBL c.737A>G variant is predicted to result in the amino acid substitution p.Asp246Gly. This variant has been previously reported as a de novo variant in an individual with Cornelia de Lange syndrome (Yan et al. 2006. PubMed ID: 16770807; Braunholz et al. 2012. PubMed ID: 21934712). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |