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 |
|---|---|---|---|---|---|
| 19 | 12 | 130 | 185 | 21 | 365 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TBL1XR1 | 14 | 9 | 114 | 165 | 20 | 321 |
| LOC126806878, TBL1XR1 | 5 | 3 | 15 | 20 | 1 | 43 |
| LOC112935911, LOC126806878, LOC129937938, LOC129937939, TBL1XR1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 11 | 5 | 126 | 185 | 20 | 347 |
| Mendelics | 1 | 4 | 0 | 0 | 0 | 5 |
| School of Pediatrics, Henan University of Chinese Medicine, Henan University Of Chinese Medicine | 3 | 1 | 0 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 2 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Servicio Extremeño de Salud, Hospital de Mérida | 0 | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomics England Pilot Project, Genomics England | 0 | 1 | 0 | 0 | 0 | 1 |