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 |
|---|---|---|---|---|---|
| 16 | 9 | 11 | 0 | 1 | 35 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| RPE65 | 16 | 9 | 11 | 1 | 35 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Ocular Genomics Institute, Massachusetts Eye and Ear | 4 | 3 | 3 | 0 | 10 |
| OMIM | 7 | 0 | 1 | 0 | 8 |
| Genome-Nilou Lab | 0 | 0 | 3 | 1 | 4 |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | 1 | 1 | 1 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 1 | 1 | 0 | 3 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 2 | 0 | 0 | 3 |
| 3billion | 2 | 1 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 1 | 0 | 2 |
| DBGen Ocular Genomics | 2 | 0 | 0 | 0 | 2 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 1 |
| Genetics Laboratory, Department of Biology, Semnan University | 1 | 0 | 0 | 0 | 1 |
| Pars Genome Lab | 1 | 0 | 0 | 0 | 1 |
| Department of Medical Genetics, Erciyes University Faculty of Medicine | 0 | 1 | 0 | 0 | 1 |