Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146742 | SCV000194061 | uncertain significance | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753523 | SCV001997406 | uncertain significance | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000146742 | SCV002055954 | uncertain significance | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing |