Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000833383 | SCV000975146 | benign | not provided | 2018-06-18 | 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. |
Molecular Genetics Laboratory, |
RCV001172922 | SCV001335997 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001664467 | SCV001875814 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664468 | SCV001875815 | benign | Intellectual disability, autosomal dominant 13 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664466 | SCV001875816 | benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2021-07-30 | criteria provided, single submitter | clinical testing |