Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126753 | SCV000170266 | benign | not specified | 2014-04-16 | 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 | RCV001079621 | SCV000252829 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000584855 | SCV000334704 | uncertain significance | not provided | 2015-09-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000584855 | SCV000692605 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172691 | SCV001335757 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |