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 |
|---|---|---|---|---|---|
| 27 | 0 | 4 | 1 | 0 | 32 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| SF3B4 | 25 | 4 | 1 | 30 |
| LOC129931382, SF3B4 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Clinical Genetics Research Group, University of Calgary | 18 | 0 | 0 | 18 |
| OMIM | 5 | 0 | 0 | 5 |
| Genetic Services Laboratory, University of Chicago | 4 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 1 | 1 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 1 |
| Institute of Medical Genetics, Medical University of Vienna | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 1 |