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 |
|---|---|---|---|---|---|
| 9 | 5 | 52 | 8 | 6 | 80 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ADAM9 | 9 | 5 | 51 | 8 | 5 | 78 |
| ADAM9, LOC130000261 | 0 | 0 | 1 | 0 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| 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 |
| Centre for Human Genetics, University of Kinshasa | 1 | 1 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 0 | 1 | 1 | 0 | 0 | 2 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Genetics in Ophthalmology, Institut Imagine | 0 | 0 | 1 | 0 | 0 | 1 |
| Palindrome, Gene Kavoshgaran Aria | 1 | 0 | 0 | 0 | 0 | 1 |