Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000578476 | SCV001428967 | likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities | 2023-05-10 | criteria provided, single submitter | clinical testing | Criteria applied: PS2, PM1, PM2_SUP |
Institute of Human Genetics, |
RCV000627682 | SCV000611125 | likely pathogenic | Intellectual disability | no assertion criteria provided | research | ||
OMIM | RCV000578476 | SCV000680484 | pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities | 2018-02-07 | no assertion criteria provided | literature only |