CIViC Evidence Items
4766 evidence items indexed
Evidence Level Distribution
CIViC evidence levels reflect study design quality, from A (strongest) to E (weakest).
AValidated — meta-analysis, systematic review, or major guideline
BClinical — prospective trial or retrospective cohort study
CCase study — single case report or small case series
DPreclinical — in vitro or animal model data
EInferential — computational prediction or biological rationale
Gene × Evidence Type
Count of CIViC evidence items per gene and evidence type category. Hover a column header for the type definition.
| Predictive | Diagnostic | Prognostic | Functional | Predispos. | Oncogenic | |
|---|---|---|---|---|---|---|
| BCR::ABL1 | 323 | 11 | ||||
| BRAF | 186 | 4 | 26 | 2 | 1 | |
| EGFR | 248 | 12 | 3 | 2 | ||
| EML4::ALK | 64 | |||||
| ERBB2 | 142 | 2 | ||||
| FLT3 | 55 | 2 | 21 | |||
| KIT | 102 | 3 | 7 | |||
| KRAS | 159 | 4 | 24 | 4 | ||
| PIK3CA | 156 | 16 | 4 | |||
| PTEN | 53 | 1 | 3 | 1 | 2 | 1 |
| TP53 | 52 | 40 | 100 | 2 | ||
| VHL | 5 | 2 | 3 | 635 | 15 |
Predictive:Links a variant to treatment response or resistance
Diagnostic:Supports or refutes a specific disease diagnosis
Prognostic:Informs disease progression or clinical outcome
Functional:Characterises the biological effect of a variant
Predisposing:Germline variant associated with cancer predisposition
Oncogenic:Characterises the variant's role in oncogenesis
| Level | Gene | Variant | Type | Direction | Significance | Disease | Drugs | Source |
|---|---|---|---|---|---|---|---|---|
| D | PRPS1 | K176N | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Daunorubicin,Asparaginase,Methotrexate,Cytarabine | Li et al., 2015 |
| D | PRPS1 | D183E | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Daunorubicin,Asparaginase,Methotrexate,Cytarabine | Li et al., 2015 |
| D | PRPS1 | A190T | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Daunorubicin,Methotrexate,Cytarabine,Asparaginase | Li et al., 2015 |
| D | PRPS1 | T303S | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Cytarabine,Methotrexate,Daunorubicin,Asparaginase | Li et al., 2015 |
| D | PRPS1 | N144S | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Methotrexate,Asparaginase,Daunorubicin | Li et al., 2015 |
| D | KRAS | R164Q | Oncogenic | Does Not Support | Oncogenicity | Cancer | Smith et al., 2010 | |
| D | KRAS | Q61H | Oncogenic | Supports | Oncogenicity | Cancer | Smith et al., 2010 | |
| D | FGFR3 | S249C | Oncogenic | Supports | Oncogenicity | Lung Squamous Cell Carcinoma | Liao et al., 2013 | |
| C | BCR::ABL1 | Fusion AND ABL1 L364I AND ABL1 M244V | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 N146S | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 V289I | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 Y253H | Predictive | Does Not Support | Resistance | Acute Lymphoblastic Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 S438C | Predictive | Supports | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 Y253H | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | BCR::ABL1 | Fusion AND ABL1 M388L | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | FGFR3 | Amplification | Predictive | Does Not Support | Sensitivity/Response | Breast Cancer | Pazopanib | Wheler et al., 2016 |
| C | CHEK2 | R474C c.1420C>T | Predisposing | Supports | Predisposition | Cancer | Kukita et al., 2016 | |
| B | CTNNB1 | Exon 3 Mutation | Diagnostic | Supports | Positive | Childhood Medulloblastoma | Fattet et al., 2009 | |
| D | PDGFRA | Overexpression | Predictive | Supports | Sensitivity/Response | Rhabdomyosarcoma | Sunitinib | McDermott et al., 2009 |
| C | BCR::PDGFRA | Fusion | Predictive | Supports | Sensitivity/Response | B-cell Acute Lymphoblastic Leukemia | Imatinib | Trempat et al., 2003 |
| C | COL1A1::PDGFB | Fusion | Predictive | Supports | Sensitivity/Response | Dermatofibrosarcoma Protuberans | Sunitinib | Xiao et al., 2018 |
| C | PDGFRB | Overexpression | Predictive | Supports | Sensitivity/Response | Dermatofibrosarcoma Protuberans | Sunitinib | Xiao et al., 2018 |
| C | ETV6::NTRK3 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Larotrectinib | Nardi et al., 2020 |
| D | ETV6::NTRK3 | Fusion | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Entrectinib | Smith et al., 2018 |
| C | SMU1::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | SNX29::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Liu et al., 2016 | |
| C | ZNF430::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | TPM3::NTRK1 | Fusion | Predictive | Supports | Sensitivity/Response | Papillary Thyroid Carcinoma | Larotrectinib | Ronsley et al., 2018 |
| B | SMARCA4 | INACTIVATING MUTATION | Diagnostic | Supports | Positive | Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type | Ramos et al., 2014 | |
| C | BCR::ABL1 | Fusion AND ABL1 E355G | Predictive | Supports | Resistance | Chronic Myeloid Leukemia | Imatinib | Branford et al., 2003 |
| C | ATF7IP::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | BCR::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | ETV6::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | PPFIBP1::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | SSBP2::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2017 | |
| C | PAX5::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Imamura et al., 2016 | |
| D | PIK3CA | E545K | Predictive | Supports | Resistance | Cervical Cancer | Cisplatin,Ionizing Radiotherapy | Arjumand et al., 2016 |
| C | RET | M918T AND RET G810S | Predictive | Supports | Resistance | Medullary Thyroid Carcinoma | Selpercatinib | Solomon et al., 2020 |
| C | VHL | Splice Site (c.340+1G>A) | Predisposing | N/A | Von Hippel-Lindau Disease | Kreusel et al., 2000 | ||
| C | VHL | Q132P (c.395A>C) | Predisposing | N/A | Von Hippel-Lindau Disease | Kreusel et al., 2000 | ||
| C | VHL | R161* (c.481C>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Kreusel et al., 2000 | ||
| C | EBF1::PDGFRB | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Chemotherapy,Imatinib | Sakurai et al., 2021 |
| B | MYOD1 | L122R | Prognostic | Supports | Poor Outcome | Spindle Cell Rhabdomyosarcoma | Tsai et al., 2019 | |
| D | FGFR3 | R248C | Predictive | Does Not Support | Resistance | Cancer | R3Mab | Qing et al., 2009 |
| D | FLT3 | Y842C | Predictive | Supports | Resistance | Acute Myeloid Leukemia | FLT3/ABL/Aurora Kinase Inhibitor KW-2449 | Williams et al., 2013 |
| D | FLT3 | Y842C | Predictive | Supports | Resistance | Acute Myeloid Leukemia | Sunitinib | Williams et al., 2013 |
| D | FLT3 | Y842C | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Midostaurin | Williams et al., 2013 |
| D | FLT3 | F691L | Predictive | Supports | Resistance | Acute Myeloid Leukemia | Lestaurtinib | Williams et al., 2013 |
| D | FLT3 | F691L | Predictive | Supports | Resistance | Acute Myeloid Leukemia | Midostaurin | Williams et al., 2013 |
| D | PIK3CA | H1047R | Predictive | Supports | Sensitivity/Response | Colorectal Cancer | Vemurafenib,Akt Inhibitor MK2206 | Yang et al., 2012 |