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 | KRAS | Exon 2 Mutation | Predictive | Does Not Support | Sensitivity/Response | Colorectal Cancer | Vemurafenib | Yang et al., 2012 |
| D | BCL2 | F104I | Predictive | Supports | Resistance | Follicular Lymphoma | Venetoclax | Blombery et al., 2019 |
| C | VHL | R167W (c.499C>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Pozo et al., 2005 | ||
| C | VHL | L184P (c.551T>C) | Predisposing | N/A | Von Hippel-Lindau Disease | Wong et al., 2008 | ||
| D | BRAF | V600E | Predictive | Supports | Sensitivity/Response | Colorectal Cancer | Vemurafenib,Irinotecan,Cetuximab | Yang et al., 2012 |
| D | BRAF | V600E | Predictive | Supports | Sensitivity/Response | Colorectal Cancer | Vemurafenib,Erlotinib | Yang et al., 2012 |
| C | BCR::ABL1 | Fusion AND ABL1 Y253F | Predictive | Supports | Resistance | Chronic Myeloid Leukemia | Imatinib | Branford et al., 2003 |
| B | PIK3CA | Mutation | Predictive | Does Not Support | Resistance | Her2-receptor Positive Breast Cancer | Trastuzumab Emtansine | Baselga et al., 2016 |
| A | ZFTA::RELA | Fusion | Diagnostic | Supports | Positive | Supratentorial Ependymoma, ZFTA Fusion–positive | Louis et al., 2016 | |
| D | FGFR3 | S249C | Predictive | Supports | Resistance | Transitional Cell Carcinoma | Cisplatin | Xie et al., 2019 |
| D | FLT3 | Y842C | Predictive | Supports | Resistance | Acute Myeloid Leukemia | Quizartinib | Williams et al., 2013 |
| B | PIK3CA | Mutation | Predictive | Supports | Resistance | Her2-receptor Positive Breast Cancer | Capecitabine,Lapatinib | Baselga et al., 2016 |
| B | PTEN | Loss | Predictive | Does Not Support | Resistance | Her2-receptor Positive Breast Cancer | Trastuzumab Emtansine | Baselga et al., 2016 |
| C | VHL | P86S (c.256C>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Corcos et al., 2008 | ||
| B | KRAS | Mutation | Predictive | Supports | Sensitivity/Response | Ovary Serous Adenocarcinoma | Binimetinib | Monk et al., 2020 |
| D | BCL2 | G101V | Predictive | Supports | Resistance | Chronic Lymphocytic Leukemia | Venetoclax | Birkinshaw et al., 2019 |
| D | FGFR3 | S249C | Functional | Supports | Gain of Function | Del Piccolo et al., 2015 | ||
| D | FGFR3 | S249C | Oncogenic | Supports | Oncogenicity | Transitional Cell Carcinoma | di Martino et al., 2009 | |
| C | IDH1 | Mutation | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Venetoclax | Huemer et al., 2019 |
| C | IDH2 | Mutation | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Venetoclax | Huemer et al., 2019 |
| D | FLT3 | N841I | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Midostaurin | Jiang et al., 2004 |
| C | SQSTM1::NTRK1 | Fusion | Predictive | Supports | Sensitivity/Response | Congenital Fibrosarcoma | Larotrectinib | DuBois et al., 2018 |
| B | ATRX | Mutation | Diagnostic | Supports | Positive | Malignant Astrocytoma | Kannan et al., 2012 | |
| C | LMNA::NTRK1 | Fusion | Predictive | Supports | Sensitivity/Response | Congenital Fibrosarcoma | Crizotinib | Bender et al., 2019 |
| D | FGFR3 | Y373C | Oncogenic | Supports | Oncogenicity | Urinary Bladder Cancer | Bernard-Pierrot et al., 2006 | |
| B | PAX3::FOXO1 | Fusion | Prognostic | Supports | Poor Outcome | Alveolar Rhabdomyosarcoma | Sorensen et al., 2002 | |
| B | PAX7::FOXO1 | Fusion | Prognostic | Supports | Better Outcome | Alveolar Rhabdomyosarcoma | Sorensen et al., 2002 | |
| C | LMNA::NTRK1 | Fusion | Predictive | Supports | Sensitivity/Response | Spindle Cell Sarcoma | TRK Inhibitor | So et al., 2020 |
| D | LMNA::NTRK1 | Fusion | Oncogenic | Supports | Oncogenicity | Spitzoid Melanoma | Wiesner et al., 2014 | |
| C | LMNA::NTRK1 | Fusion | Diagnostic | Supports | Positive | Spitzoid Melanoma | Wiesner et al., 2014 | |
| D | FLT3 | ITD | Predictive | Supports | Sensitivity/Response | Acute Myeloid Leukemia | Gilteritinib | Lee et al., 2017 |
| D | ETV6::NTRK3 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Larotrectinib | Schewe et al., 2019 |
| D | KIAA1549::BRAF | Fusion | Predictive | Supports | Sensitivity/Response | Childhood Pilocytic Astrocytoma | Trametinib | Selt et al., 2017 |
| B | TP53 | Overexpression | Prognostic | Supports | Poor Outcome | Renal Wilms' Tumor | Jadali et al., 2011 | |
| C | VHL | R167W (c.499C>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Huddle, 2011 | ||
| C | VHL | F76del (c.227_229del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | N78S (c.233A>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | P81S (c.241C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | P86S (c.256C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | P86L (c.257C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | W88S (c.263G>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | T157I (c.470C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | C162R (c.484T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | C162Y (c.485G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | L178P (c.533T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | Null (Large deletion) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | R120fs (c.358_359insAC) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | S80fs (c.239del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 |