Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000445162 | SCV000529275 | likely benign | not specified | 2016-06-30 | 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 | RCV002063377 | SCV002421195 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-09 | criteria provided, single submitter | clinical testing |