ClinVar Miner

Variants in gene EGFR

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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
18 55 645 213 38 61 1 31 1011

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response protective not provided total
EGFR-related lung cancer 0 1 583 179 22 0 0 0 785
not specified 0 0 47 22 11 0 0 20 99
Tyrosine kinase inhibitor response 0 0 0 0 0 53 0 0 53
Non-small cell lung cancer 13 27 0 0 0 0 0 4 42
Lung carcinoma 1 3 13 12 1 0 0 0 30
Hereditary cancer 0 0 22 0 0 0 0 0 22
not provided 1 0 3 5 8 0 0 0 17
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
Squamous cell lung carcinoma 1 6 0 1 0 0 0 0 8
Lung cancer 0 0 6 0 0 0 0 0 6
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
Inflammatory skin and bowel disease, neonatal, 2 1 0 1 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
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 1 0 0 0 0 0 0 1
Erlotinib response 0 0 0 0 0 1 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
Gefitinib response 0 0 0 0 0 1 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 1 0 0 0 0 0 0 1
Lip and oral cavity carcinoma 0 1 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response protective not provided total
Invitae 0 1 583 182 22 0 0 0 788
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 9 47 22 5 53 0 3 145
Database of Curated Mutations (DoCM) 6 44 0 0 0 0 0 4 48
Mendelics 1 0 25 12 1 0 0 0 38
ITMI 0 0 0 0 0 0 0 20 20
Cincinnati Children's Hospital Medical Center 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
Baylor Genetics 0 0 7 0 0 0 0 0 7
PreventionGenetics, 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 1 0 0 0 4
PharmGKB 0 0 0 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 0 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
Institute of Medical Sciences, Banaras Hindu University 0 1 0 0 0 1 0 0 2
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 1 0 0 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 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
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 1 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 1
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 0 1 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1

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