Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607867 | SCV000727525 | likely benign | not specified | 2018-02-16 | 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 | RCV001396272 | SCV001597999 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392451 | SCV004130453 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |