Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235258 | SCV000292557 | likely benign | not specified | 2017-05-04 | 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. |
Illumina Clinical Services Laboratory, |
RCV000314404 | SCV000474960 | uncertain significance | Charcot-Marie-Tooth with Vocal Cord Paresis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000369024 | SCV000474961 | uncertain significance | Charcot-Marie-Tooth, Intermediate | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487806 | SCV000575561 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079588 | SCV000644064 | likely benign | Charcot-Marie-Tooth disease, type 4A | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173553 | SCV001336643 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |