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	GNA11	Q209L	Functional	Supports	Gain of Function			Thomas et al., 2016
A	CHEK2	mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	RAD54L	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	EGFR	S768I OR EGFR G719A OR EGFR L861Q	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Afatinib	Yang et al., 2012
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Fibrosarcoma		Bourgeois et al., 2000
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Fibrosarcoma		Sheng et al., 2001
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Mesoblastic Nephroma		El Demellawy et al., 2016
A	ZMYM2::FGFR1	Fusion OR BCR::FGFR1 Fusion OR CEP43::FGFR1 Fusion OR TRIM24::FGFR1 Fusion OR FGFR1 Translocation	Predictive	Supports	Sensitivity/Response	Myeloid Neoplasm	Pemigatinib	Verstovsek et al., 2022
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Breast Secretory Carcinoma		Makretsov et al., 2004
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Breast Secretory Carcinoma		Tognon et al., 2002
B	ETV6::NTRK3	Fusion	Diagnostic	Supports	Positive	Breast Secretory Carcinoma		Krings et al., 2017
D	LMNA::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Repotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G595R	Predictive	Supports	Sensitivity/Response	Cancer	Repotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 F589L	Predictive	Supports	Sensitivity/Response	Cancer	Repotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G595R	Predictive	Supports	Resistance	Cancer	Larotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 F589L	Predictive	Supports	Resistance	Cancer	Larotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G595R AND NTRK1 F589L	Predictive	Supports	Resistance	Cancer	Larotrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 F589L	Predictive	Supports	Sensitivity/Response	Cancer	Entrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G595R	Predictive	Supports	Resistance	Cancer	Entrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G667C	Predictive	Supports	Resistance	Cancer	Entrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G595R AND NTRK1 F589L	Predictive	Supports	Resistance	Cancer	Entrectinib	Murray et al., 2021
D	LMNA::NTRK1	Fusion AND NTRK1 G667C	Predictive	Supports	Resistance	Cancer	Larotrectinib	Murray et al., 2021
B	BCOR	ITD	Diagnostic	Supports	Positive	Kidney Clear Cell Sarcoma		Astolfi et al., 2015
B	ZFTA::RELA	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Parker et al., 2014
B	ZFTA::RELA	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Pajtler et al., 2015
B	Methylation	signature ST-EPN-ZFTA	Prognostic	Supports	Better Outcome	Supratentorial Ependymoma, ZFTA Fusion–positive		Ng et al., 2023
B	Methylation	signature ST-EPN-ZFTA	Prognostic	Supports	Better Outcome	Supratentorial Ependymoma, ZFTA Fusion–positive		Upadhyaya et al., 2019
B	ZFTA::RELA	Fusion	Diagnostic	Supports	Positive	Supratentorial Ependymoma, ZFTA Fusion–positive		Pietsch et al., 2014
D	QKI::NTRK2	Fusion	Oncogenic	Supports	Oncogenicity	Malignant Astrocytoma		Ni et al., 2017
C	EML4::NTRK3	Fusion	Diagnostic	Supports	Positive	Congenital Fibrosarcoma		Tannenbaum-Dvir et al., 2015
B	ASPSCR1::TFE3	Fusion	Diagnostic	Supports	Positive	Alveolar Soft Part Sarcoma		Ju et al., 2018
B	ASPSCR1::TFE3	Fusion	Diagnostic	Supports	Positive	Renal Cell Carcinoma With MiT Translocations		Argani et al., 2001
B	v::TFEB	Fusion	Diagnostic	Supports	Positive	Renal Cell Carcinoma With MiT Translocations		Rao et al., 2012
B	YAP1::TFE3	Fusion	Diagnostic	Supports	Positive	Malignant Epithelioid Hemangioendothelioma		Antonescu et al., 2013
B	v::NCOA2	Fusion	Diagnostic	Supports	Positive	Spindle Cell Rhabdomyosarcoma		Alaggio et al., 2016
B	v::NCOA2	Fusion	Prognostic	Supports	Better Outcome	Spindle Cell Rhabdomyosarcoma		Alaggio et al., 2016
C	SQSTM1::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Larotrectinib	Drilon et al., 2022
C	SQSTM1::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Papillary Thyroid Carcinoma	Larotrectinib	Bargas et al., 2022
C	LMNA::NTRK1	Fusion	Diagnostic	Supports	Positive	Lipofibromatosis-like Neural Tumor		Panse et al., 2021
C	LMNA::NTRK1	Fusion	Diagnostic	Supports	Positive	Lipofibromatosis-like Neural Tumor		Dupuis et al., 2020
C	LMNA::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Lipofibromatosis-like Neural Tumor	Entrectinib	Dupuis et al., 2020
B	BCOR	ITD	Diagnostic	Supports	Positive	Central Nervous System Tumor With BCOR Internal Tandem Duplication		Yoshida et al., 2018
B	BCOR	ITD	Diagnostic	Supports	Positive	Sarcoma		Kao et al., 2016
B	BCOR::CCNB3	Fusion OR BCOR::MAML3 Fusion	Diagnostic	Supports	Positive	Sarcoma With BCOR Genetic Alterations		Kao et al., 2016
B	v::MAML2	Fusion	Diagnostic	Supports	Positive	Salivary Gland Mucoepidermoid Carcinoma		Noda et al., 2013
B	v::MAML2	Fusion	Diagnostic	Supports	Positive	Salivary Gland Mucoepidermoid Carcinoma		Nakayama et al., 2009
B	CIC::DUX4	Fusion	Diagnostic	Supports	Positive	CIC-rearranged Sarcoma		Song et al., 2022
B	CIC::DUX4	Fusion	Diagnostic	Supports	Positive	CIC-rearranged Sarcoma		Italiano et al., 2012
B	EWSR1::NFATC2	Fusion	Diagnostic	Supports	Positive	Round Cell Sarcoma With EWSR1-non-ETS Fusion		Diaz-Perez et al., 2019

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