Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV001788509 | SCV003798980 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2023-02-08 | criteria provided, single submitter | research | ACMG classification of pathogenicity: PVS1, PM2, PM3 and supporting |
Pediatric Genetics Clinic, |
RCV001788509 | SCV001712166 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2021-05-13 | no assertion criteria provided | clinical testing |