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 | Splice Site (c.463+2T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | |
| C | VHL | Y156C (c.467A>G) | Predisposing | N/A | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | ||
| C | VHL | V166A (c.497T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | |
| C | VHL | V170D (c.509T>A) | Predisposing | N/A | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | ||
| C | VHL | E189fs (c.565del) | Predisposing | N/A | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | ||
| C | VHL | Rearrangement | Predisposing | N/A | Von Hippel-Lindau Disease | Kruizinga et al., 2014 | ||
| C | VHL | S111C (c.331A>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | S111N (c.332G>A) | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | R113* (c.337C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | G114Vfs*45 (c.339delA) | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | H115Q (c.345C>G) | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | R120G (c.358A>G) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | N131T (c.392A>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | T133fs (c.397del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | L135* (c.404T>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | P154L (c.461C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Splice Site (c.463+2T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | T157I (c.470C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | L158P (c.473T>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | R161* (c.481C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | C162Y (c.485G>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | C162W (c.486C>G) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Q164L (c.491A>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | R167W (c.499C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | R167P (c.500G>C) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | L178P (c.532C>T) | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | Q195* (c.583C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Exon 1 Deletion | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Exon 2 Deletion | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Exon 3 Deletion | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| C | VHL | EXON 2-3 DELETION | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Bausch et al., 2016 | |
| C | VHL | Exon 1-3 Deletion | Predisposing | N/A | Von Hippel-Lindau Disease | Bausch et al., 2016 | ||
| D | PRKCB | D427N | Diagnostic | Supports | Positive | Adult T-cell Leukemia/lymphoma | Kataoka et al., 2015 | |
| C | VHL | S65W (c.194C>G) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Binderup et al., 2016 | |
| C | VHL | I151T (c.452T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Sriphrapradang et al., 2017 | |
| C | VHL | S65L (c.194C>T) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Krzystolik et al., 2016 | |
| C | VHL | E70K (c.208G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Lee et al., 2016 | |
| C | VHL | S65W (c.194C>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Peng et al., 2017 | |
| C | VHL | S65L (c.194C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Peng et al., 2017 | |
| C | VHL | E70K (c.208G>A) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Hwang et al., 2014 | |
| C | VHL | F76del (c.227_229del) | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | Hwang et al., 2014 | |
| B | TERT | Promoter Mutation | Prognostic | Supports | Poor Outcome | Glioblastoma | Killela et al., 2013 | |
| B | BRAF | V600K | Predictive | Supports | Sensitivity/Response | Melanoma | Trametinib,Dabrafenib | Long et al., 2014 |
| B | ACVR1 | G328V | Diagnostic | Supports | Positive | Diffuse Midline Glioma, H3 K27M-mutant | Buczkowicz et al., 2014 | |
| A | v::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2014 | |
| B | BRAF | V600 | Predictive | Supports | Sensitivity/Response | Melanoma | Vemurafenib,Cobimetinib | Ribas et al., 2014 |
| C | BCR::ABL1 | Fusion AND ABL1 F359V | Predictive | Supports | Resistance | Chronic Myeloid Leukemia | Imatinib Mesylate,Nilotinib | Hughes et al., 2009 |