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 | 4 | 6 | 0 | 5 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| EPHB4 | 2 | 4 | 3 | 4 | 13 |
| EPHB4, LOC126860124 | 2 | 0 | 3 | 0 | 5 |
| EPHB4, SLC12A9 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 1 | 5 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 0 | 5 | 5 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 1 | 0 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 1 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 1 |