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 |
|---|---|---|---|---|---|
| 5 | 0 | 4 | 2 | 9 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| CTU2 | 5 | 4 | 2 | 7 | 18 |
| CTU2, PIEZO1 | 0 | 0 | 0 | 2 | 2 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 1 | 0 | 9 | 10 |
| Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre | 4 | 0 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 2 | 0 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 1 |