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 |
|---|---|---|---|---|---|---|
| 7 | 6 | 13 | 0 | 1 | 1 | 26 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| TSEN2 | 7 | 6 | 13 | 1 | 1 | 26 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genetic Services Laboratory, University of Chicago | 0 | 2 | 6 | 0 | 0 | 8 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 4 | 1 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 1 | 1 | 1 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 3 | 0 | 0 | 3 |
| NeuroMeGen, Hospital Clinico Santiago de Compostela | 0 | 2 | 0 | 0 | 0 | 2 |
| Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital | 1 | 1 | 0 | 0 | 0 | 2 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 2 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Breda Genetics srl | 0 | 0 | 1 | 0 | 0 | 1 |
| Payam Genetics Center, General Welfare Department of North Khorasan Province | 1 | 0 | 0 | 0 | 0 | 1 |