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 |
|---|---|---|---|---|---|
| 29 | 17 | 3 | 0 | 17 | 63 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| ABCA4 | 27 | 16 | 1 | 15 | 56 |
| ABCA4, LOC126805793 | 1 | 1 | 1 | 2 | 5 |
| ABCA4, LOC126805794 | 1 | 0 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 17 | 17 |
| Genomics England Pilot Project, Genomics England | 6 | 9 | 0 | 0 | 15 |
| 3billion | 9 | 0 | 0 | 0 | 9 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 4 | 1 | 0 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Institute of Medical Molecular Genetics, University of Zurich | 0 | 4 | 0 | 0 | 4 |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | 2 | 0 | 1 | 0 | 3 |
| Wuhan Primbio Medical Laboratory | 1 | 2 | 0 | 0 | 3 |
| Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals | 1 | 1 | 0 | 0 | 2 |
| DBGen Ocular Genomics | 1 | 0 | 1 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 1 | 0 | 0 | 1 |
| Genetics Laboratory, Department of Biology, Semnan University | 1 | 0 | 0 | 0 | 1 |
| Pangenia Genomics, Pangenia Inc. | 1 | 0 | 0 | 0 | 1 |