Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627271 | SCV000748263 | pathogenic | not provided | 2022-02-18 | 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); Has not been previously published as pathogenic or benign to our knowledge |
Service de Génétique Moléculaire, |
RCV001270411 | SCV001450697 | pathogenic | Wiedemann-Steiner syndrome | 2020-05-26 | no assertion criteria provided | clinical testing |