Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001581992 | SCV001818188 | pathogenic | not provided | 2020-05-15 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32169460, 28677066, 23727838, 23361065) |
Genetic Services Laboratory, |
RCV001581992 | SCV002069083 | pathogenic | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002246443 | SCV002519925 | pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2022-05-04 | criteria provided, single submitter | clinical testing |