Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000490963 | SCV000282220 | likely pathogenic | Global developmental delay; Seizure; Intellectual disability; CNS hypomyelination; Brain atrophy; Hypotonia | 2016-01-10 | no assertion criteria provided | research | |
OMIM | RCV001248849 | SCV001422471 | pathogenic | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 2023-09-11 | no assertion criteria provided | literature only |