Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Regeneron Genetics Center, |
RCV000853206 | SCV000927113 | likely pathogenic | Global developmental delay; Brain atrophy | 2019-02-15 | no assertion criteria provided | research | Identified in cohort of patients with neurodevelopmental disorder accompanied by structural brain abnormalities |
OMIM | RCV001171372 | SCV001334063 | pathogenic | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2020-05-28 | no assertion criteria provided | literature only |