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 | 13 | 14 | 0 | 1 | 1 | 32 |
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 | 13 | 14 | 1 | 1 | 32 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 6 | 4 | 1 | 0 | 11 |
| Genetic Services Laboratory, University of Chicago | 0 | 2 | 6 | 0 | 0 | 8 |
| 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 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 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 |