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 |
|---|---|---|---|---|---|
| 10 | 7 | 10 | 1 | 3 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TSPEAR | 10 | 4 | 8 | 1 | 0 | 19 |
| LOC126653398, TSPEAR | 0 | 3 | 2 | 0 | 0 | 5 |
| KRTAP10-1, TSPEAR | 0 | 0 | 0 | 0 | 2 | 2 |
| KRTAP10-3, TSPEAR | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 4 | 1 | 0 | 5 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 2 | 0 | 0 | 5 |
| Mendelics | 0 | 0 | 0 | 0 | 3 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 2 | 0 | 0 | 3 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 1 | 1 | 1 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 1 | 0 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 1 | 0 | 1 | 0 | 0 | 2 |
| Duke University Health System Sequencing Clinic, Duke University Health System | 0 | 1 | 1 | 0 | 0 | 2 |
| Shieh Lab, University of California, San Francisco | 2 | 0 | 0 | 0 | 0 | 2 |
| CHU Sainte-Justine Research Center, University of Montreal | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics and Genomics, Karolinska University Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Hacettepe Pediatric Genetics Laboratory, Hacettepe University | 0 | 1 | 0 | 0 | 0 | 1 |