Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542006 | SCV000652026 | likely benign | Charcot-Marie-Tooth disease axonal type 2P | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000602228 | SCV000725277 | likely benign | not specified | 2017-11-30 | 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. |