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 |
|---|---|---|---|---|---|
| 21 | 36 | 84 | 4 | 4 | 145 |
Gene and significance breakdown #
Total genes and gene combinations: 50
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| EGFR | 4 | 24 | 3 | 0 | 0 | 29 |
| TP53 | 5 | 1 | 3 | 0 | 0 | 9 |
| MUC5AC | 0 | 0 | 7 | 1 | 0 | 8 |
| NLRP3 | 0 | 0 | 8 | 0 | 0 | 8 |
| BRAF | 2 | 4 | 0 | 0 | 0 | 6 |
| ERBB2 | 4 | 4 | 0 | 0 | 0 | 6 |
| ROS1 | 2 | 0 | 3 | 0 | 1 | 6 |
| FLT1 | 0 | 0 | 5 | 0 | 0 | 5 |
| RIN3 | 0 | 0 | 4 | 0 | 0 | 4 |
| ADAM19 | 0 | 0 | 3 | 0 | 0 | 3 |
| ADGRG6 | 0 | 0 | 3 | 0 | 0 | 3 |
| DDR2 | 0 | 0 | 2 | 0 | 1 | 3 |
| FOXP2 | 0 | 0 | 3 | 0 | 0 | 3 |
| FOXP4 | 0 | 0 | 3 | 0 | 0 | 3 |
| MLH1 | 0 | 0 | 3 | 0 | 0 | 3 |
| PTCH1 | 0 | 0 | 2 | 1 | 0 | 3 |
| RB1 | 1 | 0 | 1 | 0 | 1 | 3 |
| TLR4 | 0 | 0 | 2 | 1 | 0 | 3 |
| ADAMTSL3 | 0 | 0 | 2 | 0 | 0 | 2 |
| CD163 | 0 | 0 | 2 | 0 | 0 | 2 |
| FGF10 | 1 | 0 | 1 | 0 | 0 | 2 |
| HTR4 | 0 | 0 | 1 | 1 | 0 | 2 |
| IREB2 | 0 | 0 | 2 | 0 | 0 | 2 |
| ACTA2, PLAG1 | 0 | 1 | 0 | 0 | 0 | 1 |
| AKT1 | 0 | 0 | 1 | 0 | 0 | 1 |
| ALK | 0 | 0 | 1 | 0 | 0 | 1 |
| ALX1 | 0 | 0 | 1 | 0 | 0 | 1 |
| APC | 0 | 0 | 1 | 0 | 0 | 1 |
| CDK12 | 0 | 1 | 0 | 0 | 0 | 1 |
| CHRNA3 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHRNA3, CHRNA5 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHRNA5 | 0 | 0 | 1 | 0 | 0 | 1 |
| CHRNB4 | 0 | 0 | 1 | 0 | 0 | 1 |
| FAM13A | 0 | 0 | 1 | 0 | 0 | 1 |
| FLT1, LOC124849303 | 0 | 0 | 1 | 0 | 0 | 1 |
| FOXP4, LOC129996415 | 0 | 0 | 1 | 0 | 0 | 1 |
| FOXP4, LOC129996416 | 0 | 0 | 1 | 0 | 0 | 1 |
| FPR2 | 0 | 0 | 1 | 0 | 0 | 1 |
| KRAS | 1 | 0 | 0 | 0 | 0 | 1 |
| LOC110006318, STK11 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC126860749, TLR4 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC126861112, MUC5AC | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC130002133, PTCH1 | 0 | 0 | 1 | 0 | 0 | 1 |
| NKX2-1, SFTA3 | 0 | 0 | 0 | 0 | 1 | 1 |
| PACRG, PRKN | 1 | 0 | 0 | 0 | 0 | 1 |
| PITX2 | 0 | 0 | 1 | 0 | 0 | 1 |
| PRKN | 0 | 1 | 0 | 0 | 0 | 1 |
| PTEN | 0 | 0 | 1 | 0 | 0 | 1 |
| SLC22A18 | 0 | 0 | 1 | 0 | 0 | 1 |
| TGFB2 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research | 9 | 1 | 83 | 4 | 4 | 101 |
| Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University | 0 | 31 | 0 | 0 | 0 | 31 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 6 |
| Thoracic and Gastrointestinal Oncology Branch/CCR/NCI, NIH | 1 | 2 | 0 | 0 | 0 | 3 |
| 3DMed Clinical Laboratory Inc | 2 | 0 | 1 | 0 | 0 | 3 |
| Salgia Laboratory, City of Hope | 2 | 0 | 0 | 0 | 0 | 2 |
| Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Laboratory, University of Vermont Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 1 | 0 | 0 | 0 | 1 |