Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics, |
RCV001644993 | SCV001519058 | pathogenic | Osteogenesis imperfecta, perinatal lethal | 2021-03-10 | no assertion criteria provided | clinical testing |