Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008701 | SCV001168480 | pathogenic | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | he Q554X nonsense variant in the NIPBL gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q554X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, it is classified as pathogenic. |
Center for Molecular Medicine, |
RCV001030046 | SCV001190568 | likely pathogenic | Cornelia de Lange syndrome 1 | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001030046 | SCV002055961 | pathogenic | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing |