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 | 4 | 2 | 1 | 1 | 12 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MCM9 | 5 | 4 | 2 | 1 | 1 | 12 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 1 | 0 | 0 | 0 | 2 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 1 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 2 | 0 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 0 | 1 |
| Breda Genetics srl | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |