Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235495 | SCV001632340 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884800 | SCV004699343 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | COL1A2: PM2, BP4 |