Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000286932 | SCV000343823 | benign | not specified | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000286932 | SCV000527694 | likely benign | not specified | 2017-10-05 | 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 | RCV000470157 | SCV000561600 | benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173095 | SCV001336171 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |