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 |
|---|---|---|---|---|---|---|---|---|
| C | VHL | V194fs (c.581_582del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Klein et al., 2001 | |
| C | VHL | A149fs (c.449del14-nt) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Klein et al., 2001 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Erlic et al., 2010 | |
| C | VHL | R161* (c.481C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Cybulski et al., 2002 | |
| C | VHL | Null (Partial deletion of Exons 2 & 3) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Benhammou et al., 2010 | |
| B | RRM1 | Underexpression | Predictive | Supports | Sensitivity/Response | Pancreatic Cancer | Gemcitabine | Akita et al., 2009 |
| B | RRM1 | Underexpression | Predictive | Supports | Sensitivity/Response | Pancreatic Cancer | Gemcitabine | Nakahira et al., 2007 |
| C | VHL | F136S (c.407T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | P146fs (c.437del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | S80R (c.238A>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | S80R (c.238A>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | W88R (c.262T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | E94* (c.280G>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | H115fs (c.344del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | P102fs (c.305delC) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Rocha et al., 2003 | |
| C | VHL | E94* (c.280G>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Sun et al., 2012 | ||
| C | VHL | Y175N (c.523T>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ruiz-Llorente et al., 2004 | |
| C | VHL | Y175C (c.524A>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ruiz-Llorente et al., 2004 | |
| C | VHL | D121G (c.362A>G) | Predisposing | N/A | Von Hippel-Lindau Disease | Ruiz-Llorente et al., 2004 | ||
| C | VHL | S65L (c.194C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ruiz-Llorente et al., 2004 | |
| C | VHL | Q96* (c.286C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ruiz-Llorente et al., 2004 | |
| B | RRM1 | Underexpression | Predictive | Supports | Sensitivity/Response | Lung Non-small Cell Carcinoma | Gemcitabine,Paclitaxel,Vinorelbine | Vilmar et al., 2013 |
| C | VHL | Splice Site (c.463+2T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Jilg et al., 2012 | |
| C | VHL | R82_V84del (c.243_251del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | P40fs (c.118ins) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | T152fs (c.455insA) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | T157fs (c.472ins) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | F76del (c.227_229del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | Splice Site (c.464-1G>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | R177fs (c.528del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Crossey et al., 1994 | |
| C | VHL | G93_Y98del (c.275_292del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Stolle et al., 1998 | |
| C | VHL | F76del (c.227_229del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Stolle et al., 1998 | |
| C | VHL | E160fs (c.477del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Stolle et al., 1998 | |
| B | ARID1A | Underexpression | Prognostic | Supports | Poor Outcome | Clear Cell Renal Cell Carcinoma | Park et al., 2015 | |
| C | VHL | A149S (c.445G>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Mete et al., 2014 | |
| C | VHL | Q195* (c.583C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Losonczy et al., 2013 | |
| C | VHL | S65W (c.194C>G) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Wu et al., 2013 | |
| C | VHL | S65FS (c.194delC) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | Q73fs (c.214insGCCC) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | H125fs (c.374insA) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | T152fs (c.455insA) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | K159fs (c.474_476delGAAinsC) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | Y175* (c.525delC) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | D197FS (c.589delG) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | T202fs (c.606insA) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | R113FS (c.337delC) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | A56fs (c.166dup) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | F76del (c.227_229del) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 |