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 | 2 | 52 | 8 | 6 | 75 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ADAM9 | 7 | 2 | 51 | 8 | 5 | 73 |
| ADAM9, LOC130000261 | 0 | 0 | 1 | 0 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 50 | 8 | 4 | 62 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 0 | 1 | 1 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Laboratory of Genetics in Ophthalmology, Institut Imagine | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 1 | 0 | 0 | 0 | 0 | 1 |