Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174373 | SCV000225662 | likely benign | not specified | 2015-06-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174373 | SCV000251717 | likely benign | not specified | 2017-12-01 | 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. |
Prevention |
RCV000174373 | SCV000312235 | benign | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084819 | SCV000657711 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711269 | SCV000841604 | benign | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173689 | SCV001336797 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |