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 |
|---|---|---|---|---|---|
| 12 | 8 | 10 | 7 | 23 | 59 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RP1L1 | 12 | 8 | 10 | 7 | 23 | 59 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 20 | 20 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 3 | 7 | 3 | 14 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 1 | 4 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| DBGen Ocular Genomics | 3 | 1 | 0 | 0 | 0 | 4 |
| Institute of Medical Molecular Genetics, University of Zurich | 0 | 2 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 2 | 0 | 0 | 2 |
| School of Computer Science, University of Waterloo | 2 | 0 | 0 | 0 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 1 | 0 | 0 | 2 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Igenomix - Part of Vitrolife Group, Igenomix | 0 | 1 | 0 | 0 | 0 | 1 |