Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Department, |
RCV000991263 | SCV000994678 | likely pathogenic | Osteogenesis imperfecta | 2019-07-11 | criteria provided, single submitter | research | |
Kasturba Medical College, |
RCV003315360 | SCV004015016 | pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form | criteria provided, single submitter | clinical testing |