Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000576875 | SCV000678283 | pathogenic | Intellectual disability, autosomal dominant 8 | 2022-03-28 | no assertion criteria provided | literature only | |
Centre de Biologie Pathologie Génétique, |
RCV000576875 | SCV001428001 | likely pathogenic | Intellectual disability, autosomal dominant 8 | 2019-01-01 | no assertion criteria provided | clinical testing |