Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603973 | SCV000724095 | likely benign | not specified | 2017-11-02 | 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. |
Ce |
RCV001532743 | SCV001748423 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Invitae | RCV002065362 | SCV002339957 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-09-17 | criteria provided, single submitter | clinical testing |