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 | 6 | 1 | 0 | 6 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| STAG3 | 5 | 6 | 1 | 6 | 18 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 6 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Reproductive Development, Murdoch Childrens Research Institute | 0 | 1 | 1 | 0 | 2 |
| Breda Genetics srl | 0 | 2 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 1 |
| Institute of Reproductive and Stem Cell Engineering, Central South University | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 1 |