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 |
|---|---|---|---|---|---|
| 7 | 3 | 12 | 1 | 0 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| GFI1B | 7 | 3 | 12 | 1 | 22 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 3 | 3 | 5 | 1 | 12 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 2 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 0 | 1 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 0 | 1 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 1 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |