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 |
|---|---|---|---|---|---|
| 7 | 5 | 5 | 2 | 0 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| IL2RG | 7 | 4 | 4 | 2 | 17 |
| IL2RG, LOC126863274 | 0 | 1 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 0 | 1 | 3 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 2 | 0 | 1 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 2 | 1 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 1 | 0 | 0 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 1 | 0 | 0 | 1 |