Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198310 | SCV001369194 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2019-08-12 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Labcorp Genetics |
RCV001198310 | SCV001559237 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001580122 | SCV001809763 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001580122 | SCV001971769 | uncertain significance | not provided | no assertion criteria provided | clinical testing |