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 |
|---|---|---|---|---|---|
| 13 | 7 | 9 | 0 | 12 | 41 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| IFT140 | 4 | 5 | 3 | 6 | 18 |
| IFT140, LOC105371046 | 7 | 2 | 5 | 4 | 18 |
| IFT140, LOC126862260 | 2 | 0 | 1 | 2 | 5 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 12 | 12 |
| OMIM | 7 | 0 | 0 | 0 | 7 |
| DBGen Ocular Genomics | 1 | 0 | 5 | 0 | 6 |
| Genomics England Pilot Project, Genomics England | 2 | 2 | 0 | 0 | 4 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 1 | 0 | 2 | 0 | 3 |
| 3billion | 1 | 2 | 0 | 0 | 3 |
| MGZ Medical Genetics Center | 1 | 0 | 1 | 0 | 2 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 0 | 2 | 0 | 0 | 2 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 1 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 2 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |