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 |
|---|---|---|---|---|---|
| 20 | 4 | 4 | 1 | 4 | 32 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PMS2 | 20 | 4 | 4 | 1 | 4 | 32 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 13 | 0 | 0 | 0 | 0 | 13 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 2 | 0 | 1 | 1 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 4 |
| KCCC/NGS Laboratory, Kuwait Cancer Control Center | 2 | 0 | 2 | 0 | 0 | 4 |
| MGZ Medical Genetics Center | 1 | 1 | 1 | 0 | 0 | 3 |
| Department of Pediatrics, Memorial Sloan Kettering Cancer Center | 2 | 1 | 0 | 0 | 0 | 3 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |