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 |
|---|---|---|---|---|---|
| 7 | 8 | 2 | 0 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 2 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 1 | 0 | 2 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 1 | 0 | 0 | 2 |
| 3billion | 0 | 2 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 0 | 1 |
| Department of Medical Genetics, Oslo University Hospital | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 1 |
| Geisinger Autism and Developmental Medicine Institute, Geisinger Health System | 1 | 0 | 0 | 0 | 1 |
| The Raphael Recanati Genetics Institute, Rabin Medical Center | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |