Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000311183 | SCV000473128 | likely benign | Charcot-Marie-Tooth disease, type I | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000444012 | SCV000513922 | likely benign | not specified | 2017-07-03 | 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. |
Invitae | RCV000539502 | SCV000639655 | likely benign | Charcot-Marie-Tooth disease type 2E | 2017-12-08 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057118 | SCV000088231 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000444012 | SCV000928966 | likely benign | not specified | no assertion criteria provided | literature only |