Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489377 | SCV000576735 | uncertain significance | not provided | 2019-09-17 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); 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 |
Hudson |
RCV000515493 | SCV000611597 | uncertain significance | Complex cortical dysplasia with other brain malformations 7 | 2017-10-12 | criteria provided, single submitter | research |