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 |
|---|---|---|---|---|---|
| 35 | 3 | 1 | 0 | 0 | 39 |
Gene and significance breakdown #
Total genes and gene combinations: 13
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| HBA2, LOC106804612 | 12 | 1 | 1 | 14 |
| HBB, LOC106099062, LOC107133510 | 8 | 1 | 0 | 9 |
| HBA1, LOC106804613 | 3 | 1 | 0 | 4 |
| HBA1, HBA2, LOC106804612, LOC106804613 | 3 | 0 | 0 | 3 |
| HBA1, HBA2 | 2 | 0 | 0 | 2 |
| HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 | 1 | 0 | 0 | 1 |
| HBA1 | 1 | 0 | 0 | 1 |
| HBA1, HBA2, HBM, HBQ1 | 1 | 0 | 0 | 1 |
| HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 | 1 | 0 | 0 | 1 |
| HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 | 1 | 0 | 0 | 1 |
| HBA2 | 1 | 0 | 0 | 1 |
| HBB, LOC106099062, LOC107133510, LOC110006319 | 1 | 0 | 0 | 1 |
| HBB, LOC107133510, LOC110006319 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| GeneReviews | 15 | 0 | 0 | 15 |
| Fulgent Genetics,Fulgent Genetics | 10 | 1 | 0 | 11 |
| OMIM | 5 | 0 | 0 | 5 |
| Counsyl | 4 | 0 | 0 | 4 |
| Natera Inc | 1 | 1 | 1 | 3 |
| Baylor Genetics | 2 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 1 | 0 | 0 | 1 |
| Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra | 1 | 0 | 0 | 1 |