Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029599 | SCV000052251 | uncertain | Osteogenesis imperfecta | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Invitae | RCV002513243 | SCV003002276 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-09-05 | criteria provided, single submitter | clinical testing |