Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000176976 | SCV000228771 | benign | not specified | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000275828 | SCV000470551 | benign | Ehlers-Danlos syndrome, procollagen proteinase deficient | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000333509 | SCV000470552 | benign | Osteogenesis Imperfecta, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176976 | SCV000516444 | benign | not specified | 2016-06-01 | 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. |
Athena Diagnostics Inc | RCV000176976 | SCV000612925 | benign | not specified | 2012-09-27 | criteria provided, single submitter | clinical testing |