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 | association | total |
|---|---|---|---|---|---|---|
| 108 | 41 | 37 | 9 | 11 | 2 | 208 |
Gene and significance breakdown #
Total genes and gene combinations: 38
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|---|
| BRCA2 | 31 | 5 | 1 | 1 | 3 | 0 | 41 |
| BRCA1 | 17 | 5 | 2 | 0 | 3 | 0 | 27 |
| MSH2 | 5 | 0 | 6 | 3 | 2 | 0 | 16 |
| ATM | 6 | 3 | 1 | 0 | 0 | 0 | 10 |
| ATM, C11orf65 | 4 | 5 | 1 | 0 | 0 | 0 | 10 |
| CHEK2 | 5 | 4 | 1 | 0 | 0 | 0 | 10 |
| MSH6 | 3 | 1 | 3 | 1 | 1 | 0 | 9 |
| BRIP1 | 3 | 3 | 2 | 0 | 0 | 0 | 8 |
| MUTYH | 6 | 1 | 0 | 0 | 1 | 0 | 8 |
| PALB2 | 1 | 5 | 2 | 0 | 0 | 0 | 8 |
| BRCA1, LOC126862571 | 4 | 0 | 1 | 0 | 1 | 0 | 6 |
| TP53 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
| MLH1 | 2 | 0 | 1 | 1 | 0 | 0 | 4 |
| NBN | 2 | 1 | 1 | 0 | 0 | 0 | 4 |
| STK11 | 0 | 0 | 4 | 0 | 0 | 0 | 4 |
| BARD1 | 2 | 0 | 1 | 0 | 0 | 0 | 3 |
| PMS2 | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| RAD51C | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| APC | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| CDH1 | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| MRE11 | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| PRC1 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| PTCH2 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| PTEN | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| RAD50 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| XRCC2 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| ABCA1 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| BSCL2, GNG3, HNRNPUL2-BSCL2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| ERCC4 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| HNF1A | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| LOC130002133, PTCH1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MET | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MLH3 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PIK3CA | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| POT1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| PTCH1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RAD51D, RAD51L3-RFFL | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| TERT | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|---|---|
| Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences | 97 | 36 | 8 | 0 | 0 | 0 | 141 |
| Institute of Human Genetics, University of Leipzig Medical Center | 5 | 2 | 15 | 8 | 4 | 0 | 34 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 7 | 1 | 0 | 0 | 9 |
| Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Faculty of Medicine Ramathibodi Hospital, Mahidol University | 1 | 0 | 0 | 0 | 7 | 0 | 8 |
| Institute of Human Genetics, University of Wuerzburg | 1 | 1 | 3 | 0 | 0 | 0 | 5 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 4 | 0 | 0 | 0 | 4 |
| Phenosystems SA | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
| Research Lab, National Institute of Public Health | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Anoual Laboratory of Radio-Immuno Analysis | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Medical Oncology, Institut Jules Bordet | 1 | 1 | 0 | 0 | 0 | 0 | 2 |