Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528477 | SCV000638304 | likely benign | Charcot-Marie-Tooth disease, axonal, type 2b | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000601767 | SCV000732209 | likely benign | not specified | 2017-03-06 | 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. |