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 |
|---|---|---|---|---|---|
| 12 | 7 | 11 | 0 | 2 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| GABRG2 | 12 | 7 | 11 | 2 | 28 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Institute of Human Genetics, University of Leipzig Medical Center | 3 | 1 | 4 | 0 | 8 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| 3billion | 1 | 0 | 2 | 0 | 3 |
| Athena Diagnostics | 0 | 0 | 0 | 2 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 2 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 2 | 0 | 2 |
| Department of Neurology, Zibo Changguo Hospital | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 1 | 0 | 0 | 1 |
| NeuroMeGen, Hospital Clinico Santiago de Compostela | 0 | 1 | 0 | 0 | 1 |
| Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille | 0 | 1 | 0 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University Hospital Muenster | 0 | 0 | 1 | 0 | 1 |
| Molecular Genetics Laboratory, Motol Hospital | 1 | 0 | 0 | 0 | 1 |