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 | drug response | total |
|---|---|---|---|---|---|---|
| 2 | 0 | 4 | 0 | 0 | 2 | 8 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | drug response | total |
|---|---|---|---|---|
| RGS9 | 0 | 3 | 2 | 5 |
| RGS9BP | 2 | 1 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | pathogenic | uncertain significance | drug response | total |
|---|---|---|---|---|
| OMIM | 1 | 0 | 2 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 0 | 3 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 1 |