Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427062 | SCV000529963 | likely benign | not specified | 2017-07-10 | 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 | RCV001084638 | SCV000559804 | benign | Charcot-Marie-Tooth disease, axonal, type 2O | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711523 | SCV000841901 | benign | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174048 | SCV001337168 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |