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	*214L (c.641G>T)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Sorrell et al., 2011
B	ERBB2	Mutation	Predictive	Supports	Sensitivity/Response	Breast Cancer	Neratinib	Ma et al., 2017
B	BAP1	Mutation	Predictive	Supports	Resistance	Renal Cell Carcinoma	Sunitinib,Everolimus	Hsieh et al., 2017
A	NRAS	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab,Panitumumab	Benson et al., 2017
C	VHL	Q164R (c.491A>G)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Sovinz et al., 2010
B	CD274	Expression	Prognostic	Supports	Poor Outcome	Cancer		Wang et al., 2017
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
B	RRM1	Underexpression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gemcitabine	Dong et al., 2014
B	DICER1	E1705K	Diagnostic	Supports	Positive	Sertoli-Leydig Cell Tumor		Conlon et al., 2015
B	DICER1	D1709N	Diagnostic	Does Not Support	Positive	Sertoli-Leydig Cell Tumor		Conlon et al., 2015
B	DICER1	E1813Q	Diagnostic	Does Not Support	Positive	Sertoli-Leydig Cell Tumor		Conlon et al., 2015
D	ARID1A	Underexpression	Prognostic	Supports	Poor Outcome	Stomach Cancer		Wang et al., 2012
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
B	CD274	Expression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Pembrolizumab	Garon et al., 2015
C	RAD50	L1237F	Predictive	Supports	Sensitivity/Response	Ureter Small Cell Carcinoma	Irinotecan,Checkpoint Kinase Inhibitor AZD7762	Al-Ahmadie et al., 2014
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Her2-receptor Negative Breast Cancer	Olaparib	2017
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Breast Cancer	Olaparib	2017
B	BTK	MUTATION	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Woyach et al., 2017
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
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Vemurafenib	Hyman et al., 2015
B	FGFR2::v	Fusion OR FGFR2::? Fusion	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Infigratinib	Javle et al., 2018
B	FGFR2	Mutation	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Infigratinib	Javle et al., 2018
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Olaparib	Kaufman et al., 2015
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Oxaliplatin,Cisplatin	Golan et al., 2014
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Platinum Compound	Golan et al., 2014
B	EGFR	Mutation	Predictive	Supports	Sensitivity/Response	Peritoneal Mesothelioma	Cytoreductive Surgery,Hyperthermic Intraperitoneal Chemotherapy	Foster et al., 2010
B	EGFR	Amplification	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gefitinib,Erlotinib	Dahabreh et al., 2011
B	EGFR	Amplification	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Erlotinib,Gefitinib	Zhang et al., 2017
B	ERBB2	Overexpression	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Trastuzumab,Capecitabine	Harder et al., 2012
B	ERBB2	Overexpression	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Gemcitabine,Trastuzumab	Safran et al., 2004
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Vemurafenib	Hainsworth et al., 2018
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Trastuzumab,Pertuzumab	Hainsworth et al., 2018
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Encorafenib,Cetuximab	van Geel et al., 2017
C	VHL	E70* (c.208G>T)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995

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