Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Juno Genomics, |
RCV004796458 | SCV005418936 | likely pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III | criteria provided, single submitter | clinical testing | PP3_Strong+PM2_Supporting+PM6_Supporting+PM5_Supporting |