Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253008 | SCV001428507 | likely pathogenic | Osteogenesis imperfecta type I | 2018-10-26 | criteria provided, single submitter | clinical testing |