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 |
|---|---|---|---|---|---|
| 18 | 7 | 4 | 0 | 0 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| DBT | 18 | 7 | 4 | 29 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 12 | 0 | 0 | 12 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 2 | 5 | 2 | 9 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 2 | 0 | 3 |
| Ege University Pediatric Genetics, Ege University | 1 | 0 | 1 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 1 |
| DASA | 1 | 0 | 0 | 1 |
| clinical biochemical genetics laboratory, stanford university | 0 | 0 | 1 | 1 |