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
D	PTEN	Loss	Predictive	Supports	Resistance	Stomach Cancer	Docetaxel	Li et al., 2013
B	SMARCB1	Loss	Diagnostic	Does Not Support	Positive	Rhabdoid Cancer		Sullivan et al., 2013
B	SMARCB1	Loss	Diagnostic	Supports	Positive	Renal Medullary Carcinoma		Jia et al., 2019
B	SMARCB1	Loss	Diagnostic	Supports	Positive	Renal Medullary Carcinoma		Calderaro et al., 2012
B	SMARCB1	Loss	Diagnostic	Supports	Positive	Renal Medullary Carcinoma		Carlo et al., 2017
B	PPP2R2A	Mutation	Predictive	Does Not Support	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	BRIP1	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	BARD1	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	CHEK1	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	RAD51B	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	RAD51D	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Mesoblastic Nephroma		Zhao et al., 2020
D	LMNA::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Larotrectinib	Murray et al., 2021
B	EWSR1::WT1	Fusion	Diagnostic	Supports	Positive	Desmoplastic Small Round Cell Tumor		Gerald et al., 1998
B	EWSR1::WT1	Fusion	Diagnostic	Supports	Positive	Desmoplastic Small Round Cell Tumor		Gerald et al., 1995
C	EWSR1::WT1	Fusion	Diagnostic	Supports	Positive	Desmoplastic Small Round Cell Tumor		Ladanyi et al., 1994
C	ZFTA::NCOA1	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Tauziède-Espariat et al., 2021
C	ZFTA::NCOA2	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Tauziède-Espariat et al., 2021
C	ZFTA::MAML2	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Tauziède-Espariat et al., 2021
D	QKI::NTRK2	Fusion	Functional	Supports	Gain of Function			Ni et al., 2017
C	DICER1	E1705K	Diagnostic	Supports	Positive	Gynandroblastoma		Conlon et al., 2015
C	NTRK3	G623R AND EML4::NTRK3 Fusion	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Entrectinib	Murray et al., 2021
C	NTRK3	G623R AND EML4::NTRK3 Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Repotrectinib	Murray et al., 2021
C	YAP1::TFE3	Fusion	Diagnostic	Supports	Positive	Malignant Epithelioid Hemangioendothelioma		Lahori et al., 2023
B	YAP1::TFE3	Fusion	Oncogenic	Supports	Oncogenicity	Malignant Epithelioid Hemangioendothelioma		Dermawan et al., 2021
C	v::TFEB	Fusion	Diagnostic	Supports	Positive	Renal Cell Carcinoma With MiT Translocations		Argani et al., 2005
C	EWSR1::ERG	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma		Chen et al., 2016
C	ZMIZ1::ABL1	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	IGH::CRLF2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
B	v::ALK	Fusion OR v::ROS1 Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Crizotinib	Mansfield et al., 2022
C	v::TFE3	Fusion	Diagnostic	Supports	Positive	Renal Cell Carcinoma With MiT Translocations		Komai et al., 2009
C	ERBB2	S310F	Predictive	Supports	Sensitivity/Response	Breast Cancer	Afatinib	Bedard et al., 2022
A	ERBB2	L755M	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	L755P	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	A775_G776insTVMA	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	A775_G776insV	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	A775_G776insVVMA	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	G776_V777delinsVCD	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
C	ERBB2	G776delinsCV	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	G776delinsLC	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	G778_S779insLPS	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
C	MYB	Rearrangement	Diagnostic	Supports	Positive	Angiocentric Glioma		Ramkissoon et al., 2013
C	MYB	Truncation	Diagnostic	Supports	Positive	Angiocentric Glioma		Tatevossian et al., 2010
C	MYBL1	Rearrangement	Diagnostic	Supports	Positive	Diffuse Astrocytoma, MYB- Or MYBL1-altered		Qaddoumi et al., 2016
C	YWHAE::NUTM2A	Fusion OR YWHAE::NUTM2B Fusion OR YWHAE::NUTM2E Fusion	Diagnostic	Supports	Positive	Kidney Clear Cell Sarcoma		Kenny et al., 2020
C	YWHAE::NUTM2A	Fusion OR YWHAE::NUTM2B Fusion OR YWHAE::NUTM2E Fusion	Diagnostic	Supports	Positive	Kidney Clear Cell Sarcoma		Kenny et al., 2016
C	MYB	Rearrangement	Diagnostic	Supports	Positive	Diffuse Astrocytoma, MYB- Or MYBL1-altered		Tatevossian et al., 2010
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Astrocytoma	Entrectinib	Desai et al., 2022
C	EML4::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Congenital Fibrosarcoma	Entrectinib	Desai et al., 2022
C	TFG::ROS1	Fusion	Predictive	Supports	Sensitivity/Response	Inflammatory Myofibroblastic Tumor	Entrectinib	Desai et al., 2022

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