Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002465410 | SCV002760081 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2022-11-29 | criteria provided, single submitter | research | |
St. |
RCV002465410 | SCV003798976 | likely pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2023-02-08 | no assertion criteria provided | research | ACMG classification: PVS1, PM2 and PM3. |