Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000458824 | SCV000375001 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000458824 | SCV000557438 | likely benign | Charcot-Marie-Tooth disease type 4 | 2019-11-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000506336 | SCV000604294 | likely benign | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000506336 | SCV000714853 | likely benign | not specified | 2017-12-04 | 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. |