Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029610 | SCV000052262 | uncertain | Osteogenesis imperfecta | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Gene |
RCV000605746 | SCV000729657 | likely benign | not specified | 2017-11-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002054488 | SCV002326189 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing |