Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001773574 | SCV002003185 | uncertain significance | not provided | 2021-07-09 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Service de Génétique Moléculaire, |
RCV001261094 | SCV001438496 | likely benign | Noonan syndrome | no assertion criteria provided | clinical testing |