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 |
|---|---|---|---|---|---|
| 5 | 0 | 5 | 0 | 1 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| BLOC1S3 | 5 | 5 | 1 | 11 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| Laboratoire de Génétique Moléculaire, CHU Bordeaux | 3 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 2 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 1 | 1 |
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 0 | 1 | 0 | 1 |