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 |
|---|---|---|---|---|---|
| 29 | 9 | 6 | 0 | 1 | 45 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| ITGB3 | 25 | 7 | 5 | 0 | 37 |
| EFCAB13-DT, ITGB3 | 2 | 1 | 0 | 0 | 3 |
| ITGB3, LOC130061043 | 0 | 1 | 1 | 0 | 2 |
| ITGB3, LOC130061044 | 1 | 0 | 0 | 0 | 1 |
| ITGB3, LOC130061045 | 1 | 0 | 0 | 0 | 1 |
| SEC63 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 13 | 0 | 0 | 0 | 13 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 11 | 1 | 0 | 0 | 12 |
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 2 | 2 | 3 | 0 | 7 |
| Neuberg Centre For Genomic Medicine, NCGM | 3 | 1 | 1 | 0 | 5 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 1 | 1 | 4 |
| 3billion | 2 | 0 | 1 | 0 | 3 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics, Raz Pathobiology and Genetic Laboratory | 0 | 1 | 0 | 0 | 1 |