Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613285 | SCV000718452 | likely benign | not specified | 2017-04-25 | 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 | RCV000946122 | SCV001092223 | likely benign | Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174274 | SCV001337404 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |