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 |
|---|---|---|---|---|---|
| 1 | 1 | 16 | 9 | 3 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TCF3 | 1 | 1 | 16 | 9 | 3 | 29 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 3 | 5 | 0 | 8 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 4 | 1 | 6 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 4 | 0 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 0 | 0 | 1 | 0 | 0 | 1 |