CIViC Evidence Items
660 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 | *214L (c.641G>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Sorrell et al., 2011 | |
| C | VHL | Q164R (c.491A>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Sovinz et al., 2010 | |
| C | VHL | S80R (c.238A>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R82P (c.245G>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | G104A (c.311G>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R107H (c.320G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | S111C (c.331A>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | H115Q (c.345C>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | V155L (c.463G>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | F76del (c.227_229del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Chen et al., 2013 | |
| C | VHL | Splice Site (c.340+1G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Losonczy et al., 2013 | |
| C | VHL | R82_V84del (c.243_251del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | C77fs (c.228dup) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | L188fs (c.562delC) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | K196fs (c.584_585delAG) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | P61FS (c.182_185delCCGT) | Predisposing | N/A | Von Hippel-Lindau Disease | Ong et al., 2007 | ||
| C | VHL | R161* (c.481C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Nordstrom-O'Brien et al., 2010 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Zhang et al., 2015 | |
| C | VHL | Y98FS (c.291delC) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ku et al., 2013 | |
| C | VHL | Splice Site (c.340+1G>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Vikkath et al., 2015 | |
| C | VHL | V170D (c.509T>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Wittebol-Post et al., 1998 | |
| C | VHL | E70* (c.208G>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | Y156D (c.466T>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Neumann et al., 2002 | |
| B | VHL | Y98H (c.292T>C) | Predisposing | N/A | Von Hippel-Lindau Disease | Brauch et al., 1995 | ||
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Sizdahkhani et al., 2017 | |
| C | VHL | Y175* (c.525C>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| B | VHL | Mutation | Prognostic | Supports | Clear Cell Renal Cell Carcinoma | Hakimi et al., 2013 | ||
| B | VHL | Loss-of-function | Prognostic | Supports | Poor Outcome | Clear Cell Renal Cell Carcinoma | Schraml et al., 2002 | |
| D | VHL | Loss | Predictive | Supports | Sensitivity/Response | Renal Carcinoma | Temsirolimus | Thomas et al., 2006 |
| C | VHL | E55RfsTer11 (c.163delG) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Zbar et al., 1996 | |
| C | VHL | A56FS (c.164_165insG) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Ong et al., 2007 | |
| C | VHL | Exon 1 Deletion | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Nordstrom-O'Brien et al., 2010 | |
| C | VHL | Exon 1-2 Deletion | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Nordstrom-O'Brien et al., 2010 | |
| C | VHL | P25L (c.74C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Cybulski et al., 2002 | |
| C | VHL | P59fs (c.173_174insC) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Cho et al., 2009 | |
| C | VHL | E55* (c.163G>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Losonczy et al., 2013 | |
| C | VHL | Y98H (c.292T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | L178P (c.533T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | S65W (c.194C>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | N78H (c.232A>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | N78S (c.233A>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | S80I (c.239G>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | W117C (c.351G>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | L129Q (c.386insAGA) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | L135* (c.404T>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | N150fs (c.449del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| C | VHL | P154fs (c.462delA) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 |