Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827505 | SCV000969156 | likely benign | not provided | 2018-05-23 | 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 | RCV002067457 | SCV002491721 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000827505 | SCV004563485 | benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing |