Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080241 | SCV000563620 | benign | Charcot-Marie-Tooth disease type 2E | 2019-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000481083 | SCV000566893 | benign | not specified | 2016-09-21 | 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. |
OMIM | RCV000015076 | SCV000035332 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1f | 2004-02-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057123 | SCV000088236 | not provided | not provided | no assertion provided | not provided |