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 |
|---|---|---|---|---|---|
| 58 | 156 | 98 | 5 | 2 | 307 |
Gene and significance breakdown #
Total genes and gene combinations: 40
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TP53 | 55 | 93 | 76 | 5 | 2 | 219 |
| PIK3CA | 0 | 14 | 1 | 0 | 0 | 15 |
| CTNNB1, LOC126806658 | 0 | 11 | 0 | 0 | 0 | 11 |
| FBXW7 | 0 | 5 | 0 | 0 | 0 | 5 |
| IDH1 | 0 | 5 | 0 | 0 | 0 | 5 |
| NRAS | 0 | 5 | 0 | 0 | 0 | 5 |
| CREBBP | 0 | 4 | 0 | 0 | 0 | 4 |
| BCOR | 0 | 3 | 0 | 0 | 0 | 3 |
| BRAF | 0 | 3 | 0 | 0 | 0 | 3 |
| GNAS | 0 | 3 | 0 | 0 | 0 | 3 |
| HRAS, LRRC56 | 0 | 3 | 0 | 0 | 0 | 3 |
| SF3B1 | 0 | 3 | 0 | 0 | 0 | 3 |
| ATRX | 0 | 0 | 2 | 0 | 0 | 2 |
| BAP1 | 0 | 0 | 2 | 0 | 0 | 2 |
| NOTCH1 | 0 | 2 | 0 | 0 | 0 | 2 |
| ALK | 0 | 0 | 1 | 0 | 0 | 1 |
| ARID1B | 0 | 0 | 1 | 0 | 0 | 1 |
| ARID2 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATM | 0 | 0 | 1 | 0 | 0 | 1 |
| CDKN2C, FAF1 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHEK2 | 0 | 0 | 1 | 0 | 0 | 1 |
| CTNNB1 | 0 | 0 | 1 | 0 | 0 | 1 |
| FGFR2 | 0 | 0 | 1 | 0 | 0 | 1 |
| FUS, TFCP2 | 0 | 0 | 1 | 0 | 0 | 1 |
| H3-3A | 0 | 1 | 0 | 0 | 0 | 1 |
| INSL6, JAK2 | 0 | 0 | 1 | 0 | 0 | 1 |
| JAK3 | 0 | 0 | 1 | 0 | 0 | 1 |
| KMT2A | 0 | 0 | 1 | 0 | 0 | 1 |
| KRAS | 1 | 0 | 0 | 0 | 0 | 1 |
| MECOM | 0 | 0 | 1 | 0 | 0 | 1 |
| MLH1 | 0 | 0 | 1 | 0 | 0 | 1 |
| MSH6 | 0 | 0 | 1 | 0 | 0 | 1 |
| MYB, NFIB | 1 | 0 | 0 | 0 | 0 | 1 |
| MYBL1, NFIB | 1 | 0 | 0 | 0 | 0 | 1 |
| RAD52 | 0 | 0 | 1 | 0 | 0 | 1 |
| SMARCA2 | 0 | 0 | 1 | 0 | 0 | 1 |
| SMARCA4 | 0 | 0 | 1 | 0 | 0 | 1 |
| SMARCB1 | 0 | 0 | 1 | 0 | 0 | 1 |
| STAT3 | 0 | 0 | 1 | 0 | 0 | 1 |
| STK11 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Baylor Genetics | 46 | 33 | 72 | 0 | 0 | 151 |
| Database of Curated Mutations (DoCM) | 0 | 100 | 0 | 0 | 0 | 100 |
| Genome Sciences Centre, British Columbia Cancer Agency | 3 | 6 | 21 | 0 | 0 | 30 |
| Fulgent Genetics, Fulgent Genetics | 13 | 2 | 6 | 5 | 2 | 28 |
| Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University | 0 | 19 | 0 | 0 | 0 | 19 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 3 | 0 | 1 | 0 | 0 | 4 |
| Donald Williams Parsons Laboratory, Baylor College of Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 1 | 0 | 0 | 0 | 0 | 1 |
| Suma Genomics, Suma Genomics | 1 | 0 | 0 | 0 | 0 | 1 |