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 |
|---|---|---|---|---|---|
| 15 | 3 | 12 | 1 | 0 | 31 |
Gene and significance breakdown #
Total genes and gene combinations: 12
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| MLH1 | 9 | 1 | 1 | 0 | 11 |
| APC | 0 | 0 | 6 | 0 | 6 |
| MSH2 | 2 | 0 | 1 | 0 | 3 |
| MUTYH | 1 | 1 | 1 | 0 | 3 |
| ATM | 1 | 0 | 0 | 0 | 1 |
| CDH1 | 0 | 0 | 1 | 0 | 1 |
| CHEK2 | 0 | 1 | 0 | 0 | 1 |
| PKHD1 | 1 | 0 | 0 | 0 | 1 |
| PMS2 | 1 | 0 | 0 | 0 | 1 |
| POLD1 | 0 | 0 | 0 | 1 | 1 |
| POLE | 0 | 0 | 1 | 0 | 1 |
| XRCC2 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| 3DMed Clinical Laboratory Inc | 6 | 0 | 7 | 0 | 13 |
| Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences | 3 | 1 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 2 | 0 | 0 | 3 |
| CSER _CC_NCGL, University of Washington | 0 | 0 | 1 | 1 | 2 |
| Institute of Human Genetics, University of Wuerzburg | 2 | 0 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 0 | 2 |
| KCCC/NGS Laboratory, Kuwait Cancer Control Center | 1 | 0 | 1 | 0 | 2 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 1 | 0 | 0 | 0 | 1 |
| Medical Genetics Department, and Science and Technology Unit, Umm-al-Qura University | 1 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |