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 |
|---|---|---|---|---|---|
| 17 | 3 | 5 | 0 | 2 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| GLI3 | 13 | 3 | 5 | 2 | 23 |
| IQCE | 2 | 0 | 0 | 0 | 2 |
| KIAA0825 | 2 | 0 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin | 8 | 1 | 0 | 0 | 9 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 1 | 1 | 0 | 2 |
| Center for Statistical Genetics, Columbia University | 2 | 0 | 0 | 0 | 2 |
| Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University | 2 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| 3billion, Medical Genetics | 0 | 1 | 1 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 2 |
| Human Molecular Lab, Hazara University | 2 | 0 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 1 |
| Department of Animal Sciences, Quaid-i-Azam University | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 1 |