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 | not provided | total |
|---|---|---|---|---|---|---|
| 14 | 7 | 3 | 1 | 7 | 2 | 31 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| ATF6 | 14 | 7 | 3 | 1 | 7 | 2 | 31 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Molecular Genetics Laboratory, Institute for Ophthalmic Research | 8 | 0 | 0 | 0 | 0 | 0 | 8 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 0 | 6 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 0 | 6 |
| Mendelics | 1 | 0 | 1 | 1 | 2 | 0 | 5 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
| Laboratory of Genetics in Ophthalmology, Institut Imagine | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Molecular and Human Genetics, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Dr.Nikuei Genetic Center | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 0 | 1 |