Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127682 | SCV000171261 | benign | not specified | 2014-04-03 | 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. |
Illumina Clinical Services Laboratory, |
RCV000291196 | SCV000440716 | likely benign | Charcot-Marie-Tooth disease, type 2 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000538645 | SCV000638305 | benign | Charcot-Marie-Tooth disease, axonal, type 2b | 2017-08-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000538645 | SCV000677438 | benign | Charcot-Marie-Tooth disease, axonal, type 2b | 2017-04-25 | criteria provided, single submitter | clinical testing |