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 |
|---|---|---|---|---|---|
| 18 | 23 | 77 | 17 | 22 | 149 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ROBO3 | 18 | 22 | 74 | 15 | 21 | 142 |
| LOC124625862, ROBO3 | 0 | 0 | 3 | 1 | 0 | 4 |
| LOC130007006, ROBO3 | 0 | 1 | 0 | 1 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 72 | 17 | 20 | 109 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 18 | 1 | 0 | 0 | 19 |
| OMIM | 14 | 0 | 0 | 0 | 0 | 14 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 1 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 0 | 1 | 0 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 2 | 0 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 2 | 0 | 0 | 0 | 3 |
| Centogene AG - the Rare Disease Company | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 0 | 1 |
| Pathology and Clinical Laboratory Medicine, King Fahad Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 1 | 0 | 0 | 0 | 0 | 1 |