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 |
|---|---|---|---|---|---|
| 7 | 7 | 10 | 1 | 5 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| NR2E3 | 7 | 7 | 10 | 1 | 5 | 28 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 7 | 1 | 4 | 12 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 1 | 4 | 0 | 0 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Institute of Human Genetics, University of Leipzig Medical Center | 2 | 0 | 1 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 1 | 2 |
| 3billion | 1 | 0 | 1 | 0 | 0 | 2 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 0 | 1 |
| DBGen Ocular Genomics | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 0 | 0 | 0 | 0 | 1 |