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 |
|---|---|---|---|---|---|---|
| 13 | 293 | 2 | 0 | 0 | 28 | 336 |
Gene and significance breakdown #
Total genes and gene combinations: 39
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | association | total |
|---|---|---|---|---|---|
| TP53 | 0 | 108 | 0 | 0 | 108 |
| PIK3CA | 0 | 49 | 0 | 0 | 49 |
| CTNNB1, LOC126806658 | 0 | 28 | 0 | 0 | 28 |
| MED12 | 0 | 0 | 0 | 28 | 28 |
| FBXW7 | 0 | 15 | 0 | 0 | 15 |
| NRAS | 0 | 11 | 0 | 0 | 11 |
| HRAS, LRRC56 | 0 | 10 | 0 | 0 | 10 |
| FGFR2 | 0 | 8 | 0 | 0 | 8 |
| ERBB2 | 0 | 6 | 0 | 0 | 6 |
| PTEN | 0 | 6 | 0 | 0 | 6 |
| ERBB3 | 0 | 5 | 0 | 0 | 5 |
| MTOR | 0 | 5 | 0 | 0 | 5 |
| PPP2R1A | 0 | 5 | 0 | 0 | 5 |
| MSH6 | 3 | 1 | 0 | 0 | 4 |
| NFE2L2 | 0 | 4 | 0 | 0 | 4 |
| POLE | 0 | 4 | 0 | 0 | 4 |
| SPOP | 0 | 4 | 0 | 0 | 4 |
| BRAF | 0 | 3 | 0 | 0 | 3 |
| BRCA2 | 3 | 0 | 0 | 0 | 3 |
| MAP2K1 | 0 | 3 | 0 | 0 | 3 |
| MSH2 | 2 | 1 | 0 | 0 | 3 |
| RAC1 | 0 | 3 | 0 | 0 | 3 |
| XPO1 | 0 | 3 | 0 | 0 | 3 |
| RHEB | 0 | 2 | 0 | 0 | 2 |
| U2AF1 | 0 | 2 | 0 | 0 | 2 |
| ATM, C11orf65 | 1 | 0 | 0 | 0 | 1 |
| BRCA1 | 1 | 0 | 0 | 0 | 1 |
| BRIP1 | 1 | 0 | 0 | 0 | 1 |
| CHEK2 | 1 | 0 | 0 | 0 | 1 |
| DLX3 | 0 | 1 | 0 | 0 | 1 |
| FH | 0 | 1 | 0 | 0 | 1 |
| HMGA2 | 0 | 0 | 1 | 0 | 1 |
| KRAS | 0 | 1 | 0 | 0 | 1 |
| MYCN, MYCNOS | 0 | 1 | 0 | 0 | 1 |
| PALB2 | 1 | 0 | 0 | 0 | 1 |
| PIK3R1 | 0 | 1 | 0 | 0 | 1 |
| PTCH1 | 0 | 0 | 1 | 0 | 1 |
| RAD51C | 0 | 1 | 0 | 0 | 1 |
| SOS1 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | association | total |
|---|---|---|---|---|---|
| Database of Curated Mutations (DoCM) | 0 | 287 | 0 | 0 | 287 |
| Rajkovic Lab, University of Pittsburgh | 0 | 0 | 0 | 28 | 28 |
| CZECANCA consortium | 12 | 3 | 0 | 0 | 15 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 1 | 0 | 2 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 1 | 0 | 0 | 2 |
| Clinical Bioinformatic Lab, Royan Institute | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 1 |