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 |
|---|---|---|---|---|---|
| 20 | 2 | 19 | 1 | 4 | 46 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OTX2 | 20 | 2 | 19 | 1 | 4 | 46 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 1 | 16 | 0 | 4 | 21 |
| OMIM | 13 | 0 | 0 | 0 | 0 | 13 |
| 3billion | 2 | 0 | 1 | 0 | 0 | 3 |
| Mendelics | 0 | 0 | 1 | 1 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals | 1 | 0 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 1 | 0 | 0 | 0 | 0 | 1 |