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 |
|---|---|---|---|---|---|
| 52 | 5 | 17 | 3 | 1 | 78 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| HBB, LOC106099062, LOC107133510 | 32 | 3 | 6 | 2 | 1 | 44 |
| HBA2, LOC106804612 | 6 | 1 | 6 | 0 | 0 | 13 |
| HBB, LOC107133510, LOC110006319 | 6 | 0 | 4 | 1 | 0 | 11 |
| HBA1, LOC106804613 | 6 | 1 | 0 | 0 | 0 | 7 |
| HBA1, HBA2, LOC106804612 | 1 | 0 | 1 | 0 | 0 | 2 |
| HBB, LOC106099062, LOC107133510, LOC110006319 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 42 | 5 | 12 | 3 | 1 | 63 |
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 5 | 0 | 0 | 6 |
| Mendelics | 3 | 0 | 0 | 0 | 0 | 3 |
| DASA | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili | 1 | 0 | 0 | 0 | 0 | 1 |