Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV001250386 | SCV001372471 | pathogenic | Intellectual disability, autosomal dominant 1 | 2019-12-17 | criteria provided, single submitter | clinical testing | intellectual disability, epilepsy, autism |
OMIM | RCV001250386 | SCV002587815 | pathogenic | Intellectual disability, autosomal dominant 1 | 2022-10-28 | no assertion criteria provided | literature only |