Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002287296 | SCV002577567 | pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2022-04-05 | criteria provided, single submitter | clinical testing | PS2, PM2, PP2, PP3 |
Center for Statistical Genetics, |
RCV003445163 | SCV004171802 | pathogenic | Congenital bilateral perisylvian syndrome | 2023-12-01 | criteria provided, single submitter | research |