Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV003397193 | SCV004102700 | pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV004698882 | SCV005200920 | pathogenic | KAT6B-related disorder | 2024-04-09 | criteria provided, single submitter | clinical testing | PVS1, PS2, PS4_Supporting, PM2 |