If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 2 | 1 | 13 | 0 | 1 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| RUBCN | 2 | 1 | 13 | 1 | 17 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 2 | 0 | 2 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 2 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 2 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 2 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 1 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 1 |
| Dr. med. U. Finckh, Human Genetics, Eurofins MVZ | 0 | 0 | 1 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 1 |
| Institute of Immunology and Genetics Kaiserslautern | 1 | 0 | 0 | 0 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 0 | 0 | 1 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 1 |