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 | not provided | total |
|---|---|---|---|---|---|---|
| 5 | 3 | 6 | 0 | 7 | 1 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| TSEN54 | 5 | 3 | 6 | 6 | 1 | 19 |
| LOC112533671, TSEN54 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 7 | 0 | 7 |
| Baylor Genetics | 1 | 0 | 5 | 0 | 0 | 6 |
| Genetic Services Laboratory, University of Chicago | 3 | 0 | 0 | 0 | 0 | 3 |
| MGZ Medical Genetics Center | 1 | 0 | 1 | 0 | 0 | 2 |
| NeuroMeGen, Hospital Clinico Santiago de Compostela | 0 | 2 | 0 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Pediatric Genetics Clinic, Sheba Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Immunology and Genetics Kaiserslautern | 1 | 0 | 0 | 0 | 0 | 1 |