Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841652 | SCV000983631 | benign | not provided | 2018-06-14 | 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. |
Inherited Neuropathy Consortium | RCV000789611 | SCV000928975 | benign | not specified | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447229 | SCV004174537 | uncertain significance | Giant axonal neuropathy 1 | 2020-12-22 | no assertion criteria provided | literature only |