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 |
|---|---|---|---|---|---|
| 2 | 1 | 7 | 0 | 8 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| TFRC | 2 | 1 | 7 | 8 | 16 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 8 | 8 |
| Baylor Genetics | 0 | 0 | 5 | 0 | 5 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 1 |