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 | not provided | total |
|---|---|---|---|---|---|---|
| 55 | 3 | 1 | 0 | 9 | 1 | 68 |
Gene and significance breakdown #
Total genes and gene combinations: 15
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| HBA2, LOC106804612 | 16 | 1 | 1 | 6 | 1 | 24 |
| HBA1, LOC106804613 | 8 | 1 | 0 | 2 | 0 | 11 |
| HBB, LOC106099062, LOC107133510 | 8 | 1 | 0 | 0 | 0 | 9 |
| HBA1, HBA2 | 6 | 0 | 0 | 0 | 0 | 6 |
| HBA1, HBA2, HBZ | 4 | 0 | 0 | 0 | 0 | 4 |
| HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 | 3 | 0 | 0 | 0 | 0 | 3 |
| HBA1, HBA2, LOC106804612, LOC106804613 | 3 | 0 | 0 | 0 | 0 | 3 |
| HBA2 | 1 | 0 | 0 | 1 | 0 | 2 |
| HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBA1 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBA1, HBA2, HBM, HBQ1 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBA1, HBA2, HBM, LOC106804612, LOC106804613 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBB, LOC106099062, LOC107133510, LOC110006319 | 1 | 0 | 0 | 0 | 0 | 1 |
| HBB, LOC107133510, LOC110006319 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| The ITHANET community portal, The Cyprus Institute of Neurology and Genetics | 21 | 0 | 0 | 9 | 0 | 30 |
| GeneReviews | 15 | 0 | 0 | 0 | 0 | 15 |
| Fulgent Genetics,Fulgent Genetics | 10 | 1 | 0 | 0 | 0 | 11 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Counsyl | 3 | 0 | 0 | 0 | 0 | 3 |
| Natera Inc | 1 | 1 | 1 | 0 | 0 | 3 |
| Baylor Genetics | 2 | 0 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 2 | 0 | 0 | 0 | 0 | 2 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Myriad Women's Health, Inc. | 1 | 0 | 0 | 0 | 0 | 1 |
| Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra | 1 | 0 | 0 | 0 | 0 | 1 |