Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989948 | SCV001140692 | pathogenic | Osteogenesis imperfecta type I | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279683 | SCV002564756 | likely pathogenic | Osteogenesis imperfecta | 2020-07-22 | criteria provided, single submitter | clinical testing |