Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Institute, |
RCV001391250 | SCV001593197 | likely pathogenic | Corpus callosum, agenesis of; Arachnoid cyst; Periventricular heterotopia | 2021-05-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004584894 | SCV005074891 | pathogenic | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | ARX: PM1, PM2, PM5, PS2:Moderate, PP2, PP3 |