Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003992364 | SCV004810823 | pathogenic | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | MAGEL2: PVS1:Strong, PM1, PM2, PP4, PS4:Supporting |
Department Of Pediatrics And Neonatology, |
RCV000754907 | SCV000784668 | pathogenic | Schaaf-Yang syndrome | 2018-06-25 | no assertion criteria provided | clinical testing |