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 |
|---|---|---|---|---|---|
| 4 | 3 | 14 | 1 | 7 | 25 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SLFN14 | 4 | 3 | 11 | 1 | 3 | 18 |
| LOC107985033, SLFN14 | 0 | 0 | 3 | 0 | 4 | 7 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 7 | 7 |
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 0 | 2 | 3 | 0 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 0 | 4 | 0 | 0 | 4 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 2 | 1 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |