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 | 3 | 4 | 0 | 0 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| MCM8 | 5 | 3 | 4 | 11 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 3 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 2 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 1 |
| Reproductive Development, Murdoch Childrens Research Institute | 0 | 1 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 1 |
| Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili | 0 | 1 | 0 | 1 |