Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000285750 | SCV000336970 | likely benign | not specified | 2015-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000285750 | SCV000532937 | likely benign | not specified | 2016-11-01 | 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. |
Invitae | RCV000863198 | SCV001003817 | benign | Charcot-Marie-Tooth disease axonal type 2C | 2019-12-31 | criteria provided, single submitter | clinical testing |