Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000576877 | SCV000678277 | pathogenic | Intellectual disability, autosomal dominant 8 | 2018-01-09 | no assertion criteria provided | literature only | |
Institute of experimental medicine CAS – Neurochemistry department. |
RCV002293244 | SCV002574799 | not provided | not provided | no assertion provided | in vitro | The N650K variant has been reported in patient with severe developmental delay and seizures. Patient showed hand-washing, hand-wringing, hand-mouthing stereotypical movements, dyskinesia, bruxism (Lemke et al., 2016 PMID: 27164704; Ohba et al., 2015 PMID: 25864721). |