Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211099 | SCV001382621 | pathogenic | Landau-Kleffner syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576146 | SCV001803275 | pathogenic | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | 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: 30544257) |
Institute of Human Genetics, |
RCV001211099 | SCV002026456 | likely pathogenic | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | research |