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 | 2 | 4 | 0 | 0 | 6 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| INSL6, JAK2 | 1 | 2 | 4 | 6 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 1 | 3 |
| 3billion | 0 | 1 | 1 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 1 |
| Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | 1 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory, University of Rochester Medical Center | 1 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 1 |
| Provincial Medical Genetics Program of British Columbia, University of British Columbia | 1 | 0 | 0 | 1 |