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 |
|---|---|---|---|---|---|
| 8 | 6 | 0 | 0 | 5 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| PRPH2 | 8 | 5 | 5 | 18 |
| IMPG2 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | benign | total |
|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 5 | 5 |
| DBGen Ocular Genomics | 1 | 1 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 1 |
| Institute of Medical Molecular Genetics, University of Zurich | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 1 |
| Leiden Open Variation Database | 0 | 1 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 1 |
| Medical Retina And Imaging, Irccs Ospedale San Raffaele | 0 | 1 | 0 | 1 |