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
E	TRIM63::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Melanoma	Larotrectinib	Lezcano et al., 2018
E	DDR2::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Melanoma	Larotrectinib	Lezcano et al., 2018
E	GON4L::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Melanoma	Larotrectinib	Lezcano et al., 2018
D	FGFR3	V555M	Predictive	Supports	Resistance	Myeloid Neoplasm	PD173074,Fexagratinib,AZ12908010	Chell et al., 2013
C	VHL	Y112H (c.334T>C)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Chen et al., 1995
C	SDHB	p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC)	Predisposing	Supports	Uncertain Significance	Paraganglioma		Musil et al., 2010
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Congenital Fibrosarcoma	Larotrectinib	Nagasubramanian et al., 2016
C	VHL	E70K (c.208G>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	V66Gfs*89 (c.197_209del)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	F76del (c.227_229del)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	N78S (c.233A>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	R79_S80del (c.236_241delGCAGTC)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	P86A (c.256C>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	P86S (c.256C>T)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	L89P (c.266T>C)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	D92G (c.275A>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	Y98H (c.292T>C)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	P138T (c.412C>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Feletti et al., 2016
C	VHL	R167Q (c.500G>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Feletti et al., 2016
C	VHL	Deletion	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Feletti et al., 2016
C	VHL	Y175* (c.525C>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	S65L (c.194C>T)	Predisposing	N/A		Von Hippel-Lindau Disease		Takayanagi et al., 2017
C	VHL	S65L (c.194C>T)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Binderup et al., 2016
C	VHL	*214G (c.640T>G)	Predisposing	N/A		Von Hippel-Lindau Disease		Dannenberg et al., 2003
C	VHL	*214C (c.641_642insC)	Predisposing	N/A		Von Hippel-Lindau Disease		Dannenberg et al., 2003
C	VHL	S65L (c.194C>T)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Sato et al., 2013
B	NRAS	Q61	Prognostic	Does Not Support	Poor Outcome	Follicular Thyroid Carcinoma		Muzza et al., 2015
B	HRAS	Q61	Prognostic	Does Not Support	Poor Outcome	Follicular Thyroid Carcinoma		Muzza et al., 2015
C	ETV6::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma	Dasatinib	Roberts et al., 2014
C	BCR::ABL1	Fusion AND ABL1 M244V	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate	Khoury et al., 2012
B	ABL1	P-Loop Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Khoury et al., 2012
C	VHL	L178P (c.533T>C)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
C	VHL	Y175* (c.525C>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Bausch et al., 2016
B	HEY1::NCOA2	Fusion	Diagnostic	Supports	Positive	Mesenchymal Chondrosarcoma		Bishop et al., 2015
C	JAK2	F694L	Predictive	Supports	Sensitivity/Response	Childhood B-cell Acute Lymphoblastic Leukemia	Ruxolitinib	Mayfield et al., 2017
C	EBF1::PDGFRB	Fusion	Predictive	Supports	Sensitivity/Response	Childhood B-cell Acute Lymphoblastic Leukemia	Imatinib	Schwab et al., 2016
E	EGFR	V441F	Predictive	Supports	Resistance	Colorectal Cancer	Panitumumab,Cetuximab	Strickler et al., 2018
C	EBF1::PDGFRB	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Dasatinib,Imatinib	Roberts et al., 2014
E	KIT	M541L	Predictive	Supports	Sensitivity/Response	Colon Signet Ring Adenocarcinoma	Imatinib	Alvi et al., 2017
D	KIAA1549::BRAF	Fusion	Predictive	Supports	Sensitivity/Response	Childhood Low-grade Glioma	Trametinib,Everolimus	Jain et al., 2017
C	NUP214::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Dexamethasone,Dasatinib,Vincristine	Duployez et al., 2016
D	TP53	C238Y	Functional	Supports	Dominant Negative			Monti et al., 2011
C	SNX2::ABL1	Fusion	Predictive	Supports	Resistance	B-lymphoblastic Leukemia/lymphoma	Dasatinib	Masuzawa et al., 2014
C	FGFR1	Amplification	Predictive	Supports	Sensitivity/Response	Breast Cancer	Pazopanib	Cheng et al., 2017
C	FOXP1::ABL1	Fusion	Oncogenic	Supports	Oncogenicity	B-lymphoblastic Leukemia/lymphoma		Ernst et al., 2011
C	KIT	V555_V559DEL	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
C	KIT	K550_K559DEL	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
C	KIAA1549::BRAF	Fusion	Predictive	Supports	Sensitivity/Response	Spindle Cell Sarcoma	Bevacizumab,Sorafenib,Temsirolimus	Ross et al., 2016
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Icotinib	Guan et al., 2019
D	KIT	N822K	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Ponatinib	Gozgit et al., 2011

Page 84 of 96

Previous Next