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 | 7 | 21 | 2 | 0 | 35 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| ITGA2B | 4 | 4 | 20 | 2 | 28 |
| ITGB3 | 2 | 3 | 1 | 0 | 6 |
| EFCAB13-DT, ITGB3 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 4 | 4 | 4 | 0 | 12 |
| Baylor Genetics | 2 | 0 | 2 | 0 | 4 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 4 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 3 | 0 | 4 |
| Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto | 0 | 0 | 3 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 2 | 2 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 0 | 2 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 0 | 1 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 1 |
| Wangler Lab, Baylor College of Medicine | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 1 |