ClinVar Miner

Variants in gene EGFR

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response protective not provided total
16 54 109 42 18 61 1 31 296

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response protective not provided total
not specified 0 0 46 22 10 0 0 20 97
Lung cancer 0 3 38 20 0 0 0 0 61
Tyrosine kinase inhibitor response 0 0 0 0 0 53 0 0 53
Non-small cell lung cancer 12 27 0 0 0 0 0 4 41
Hereditary cancer 0 0 24 0 0 0 0 0 24
Squamous cell carcinoma of the head and neck 0 6 0 0 0 6 0 0 12
Glioblastoma 0 11 0 0 0 0 0 0 11
Lung adenocarcinoma 2 7 1 0 0 0 0 0 10
Neoplasm of brain 0 10 0 0 0 0 0 0 10
not provided 0 0 0 0 8 0 0 0 8
Squamous cell lung carcinoma 1 6 0 0 0 0 0 0 7
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic 0 0 0 0 0 5 0 0 5
Neoplasm of the large intestine 0 1 0 0 0 0 0 3 4
Brainstem glioma 0 3 0 0 0 0 0 0 3
Endometrial carcinoma 0 0 0 0 0 0 0 3 3
Head and Neck Neoplasms 0 3 0 0 0 0 0 0 3
gefitinib response - Efficacy 0 0 0 0 0 3 0 0 3
Glioblastoma multiforme, somatic 0 0 2 0 0 0 0 0 2
Squamous cell carcinoma 0 2 0 0 0 0 0 0 2
erlotinib response - Efficacy 0 0 0 0 0 2 0 0 2
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic 0 0 0 0 0 1 0 0 1
Carcinoma of esophagus 0 1 0 0 0 0 0 0 1
Cerebral arteriovenous malformation 0 1 0 0 0 0 0 0 1
Cowden syndrome 1 1 0 0 0 0 0 0 0 1
EGFR-related lung cancer 0 1 0 0 0 0 0 0 1
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 1 0 0 0 0 0 0 1
Esophageal Squamous Cell Carcinoma 0 1 0 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 0 1 1
Inflammatory skin and bowel disease, neonatal, 2 1 0 0 0 0 0 0 0 1
Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in 0 0 0 0 0 0 1 0 1
Prostate neoplasm 0 1 0 0 0 0 0 0 1
carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response protective not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 9 46 22 5 53 0 3 144
Illumina Clinical Services Laboratory,Illumina 0 0 33 20 0 0 0 0 53
Database of Curated Mutations (DoCM) 6 44 0 0 0 0 0 4 48
Mendelics 0 0 24 0 0 0 0 0 24
ITMI 0 0 0 0 0 0 0 20 20
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 8 0 0 0 8
OMIM 1 0 0 0 0 5 1 0 7
PreventionGenetics 0 0 0 0 7 0 0 0 7
Genetics, Bhagwan Mahavir Medical Research Centre 0 0 0 0 0 6 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 5 0 0 0 0 0 5
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 4 4
PharmGKB 0 0 0 0 0 3 0 0 3
3DMed Clinical Laboratory Inc 2 0 1 0 0 0 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 0 2 0 0 0 0 0 2
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 1 0 0 0 0 0 0 0 1
Invitae 0 1 0 0 0 0 0 0 1
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 0 1 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.