Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001175148 | SCV001335330 | pathogenic | Intellectual disability, autosomal dominant 8 | criteria provided, single submitter | clinical testing | ||
Institute of experimental medicine CAS – Neurochemistry department. |
RCV002293250 | SCV002574796 | not provided | not provided | no assertion provided | in vitro | The A645S variant has been identified in patients with sever intellectual disability, cortical visual impairment, seizures (Lemke et al., 2016, PMID: 27164704) |