Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000627680 | SCV000611123 | likely pathogenic | Intellectual disability | no assertion criteria provided | clinical testing | ||
OMIM | RCV000578485 | SCV000680482 | pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities | 2018-02-07 | no assertion criteria provided | literature only |