Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543506 | SCV000640211 | likely benign | Charcot-Marie-Tooth disease axonal type 2F | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000610624 | SCV000716027 | likely benign | not specified | 2017-02-23 | 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. |
Molecular Genetics Laboratory, |
RCV001172558 | SCV001335620 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |