Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000591895 | SCV000707659 | benign | not specified | 2017-04-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591895 | SCV000714022 | benign | not specified | 2017-04-04 | 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 | RCV000861111 | SCV001001334 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E | 2019-12-31 | criteria provided, single submitter | clinical testing |