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 |
|---|---|---|---|---|---|
| 6 | 3 | 2 | 0 | 0 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SOX5 | 6 | 3 | 2 | 11 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Genomic Research Center,Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 1 |
| HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement,Université de Bourgogne | 0 | 1 | 0 | 1 |
| Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 0 | 0 | 1 | 1 |
| Laboratoire de Cytogenetique,Hospices Civils de Lyon | 0 | 1 | 0 | 1 |