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 |
|---|---|---|---|---|---|
| 11 | 3 | 8 | 0 | 4 | 26 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| IMPG2 | 11 | 3 | 8 | 4 | 26 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 2 | 0 | 2 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 3 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 1 | 1 | 1 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| MGZ Medical Genetics Center | 0 | 1 | 1 | 0 | 2 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 2 | 0 | 0 | 0 | 2 |
| DBGen Ocular Genomics | 2 | 0 | 0 | 0 | 2 |
| Department of Medical Genetics, Erciyes University Faculty of Medicine | 0 | 1 | 1 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |
| Sydney Genome Diagnostics, Children's Hospital Westmead | 0 | 0 | 1 | 0 | 1 |