Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000725079 | SCV000333835 | uncertain significance | not provided | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000397692 | SCV000522638 | likely benign | not specified | 2015-12-29 | 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 | RCV001088169 | SCV001007229 | likely benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173893 | SCV001337009 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |