Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002244114 | SCV002512396 | likely pathogenic | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 2022-01-24 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4 supporting, PM1 moderate, PM2 moderate, PM5, PP3 supporting |