Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000209943 | SCV000265574 | pathogenic | Intellectual disability, autosomal dominant 13 | 2015-06-02 | criteria provided, single submitter | research | |
Gene |
RCV000657853 | SCV000779610 | pathogenic | not provided | 2020-04-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28554332) |