ClinVar Miner

Variants in gene EGFR

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Minimum conflict level:
Gene type:

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 other not provided total
105 82 2036 1726 244 60 1 93 3891

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
EGFR-related lung cancer 64 30 1555 1299 57 0 0 4 3005
Hereditary cancer-predisposing syndrome 0 2 993 726 33 0 0 0 1729
not provided 1 3 73 126 103 0 0 0 287
Lung cancer 2 4 9 56 108 0 0 3 181
not specified 0 0 60 28 20 0 0 19 120
EGFR-related disorder 0 1 30 32 1 0 0 0 64
Tyrosine kinase inhibitor response 0 0 0 0 0 53 0 0 53
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer 0 0 45 3 0 0 0 1 49
Neoplasm 13 9 15 1 0 0 0 0 38
Lung adenocarcinoma 4 24 3 0 0 0 0 0 29
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 27 27
Lung carcinoma 1 0 11 12 1 0 0 0 25
Hereditary cancer 0 0 12 9 0 0 0 0 21
Non-small cell lung carcinoma 11 9 0 0 0 0 0 2 21
Inflammatory skin and bowel disease, neonatal, 2 3 0 2 0 6 0 0 0 11
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 10 0 0 0 0 0 0 0 10
Ovarian cancer 0 4 0 0 6 0 0 0 10
Diffuse midline glioma, H3 K27M-mutant 9 0 0 0 0 0 0 0 9
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 9 9
Cervical cancer 0 0 0 0 0 0 0 6 6
Malignant tumor of urinary bladder 6 0 0 0 0 0 0 0 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 6 6
Squamous cell carcinoma of the head and neck 0 0 0 0 0 6 0 0 6
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic 0 0 0 0 0 5 0 0 5
Diffuse midline glioma, H3 K27-altered 0 0 4 0 0 0 0 0 4
Sarcoma 0 0 0 0 0 0 0 4 4
Endometrial carcinoma 0 0 0 0 0 0 0 3 3
Glioma susceptibility 1 0 0 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 0 0 3 3
See cases 0 0 3 0 0 0 0 0 3
Squamous cell carcinoma 0 0 3 0 0 0 0 0 3
Clear cell carcinoma of kidney 0 0 0 0 0 0 0 2 2
EGFR-related lung cancer; Inflammatory skin and bowel disease, neonatal, 2 0 0 0 0 0 0 0 2 2
Glioblastoma multiforme, somatic 0 0 2 0 0 0 0 0 2
Squamous cell lung carcinoma 1 0 0 1 0 0 0 0 2
Thymoma 0 0 0 0 0 0 0 2 2
gefitinib 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
Cerebral arteriovenous malformation 0 1 0 0 0 0 0 0 1
Cerebral palsy 0 0 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 0 1
Colon adenocarcinoma 0 0 0 0 0 0 0 1 1
Cowden syndrome 1 1 0 0 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 0 1
IDH-wildtype glioblastoma 1 0 0 0 0 0 0 0 1
Lip and oral cavity carcinoma 0 1 0 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 0 1 1
Polymorphous low grade neuroepithelial tumor of the young 0 1 0 0 0 0 0 0 1
erlotinib response - Efficacy 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 64 30 1555 1299 57 0 0 0 3005
Ambry Genetics 0 1 968 720 28 0 0 0 1717
GeneDx 0 1 15 61 80 0 0 0 157
Myriad Genetics, Inc. 0 1 0 47 102 0 0 0 150
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 9 48 22 5 53 0 2 145
Breakthrough Genomics, Breakthrough Genomics 0 0 3 28 60 0 0 0 91
Sema4, Sema4 0 0 39 43 6 0 0 0 88
PreventionGenetics, part of Exact Sciences 0 1 30 32 8 0 0 0 71
CeGaT Center for Human Genetics Tuebingen 1 1 7 50 9 0 0 0 68
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 61 61
Mendelics 1 0 22 22 4 0 0 0 49
Fulgent Genetics, Fulgent Genetics 0 0 45 3 0 0 0 0 48
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 13 9 15 1 0 0 0 0 38
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 23 2 10 0 0 0 37
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 23 0 0 0 0 0 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 11 8 0 0 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 8 11 0 0 0 20
ITMI 0 0 0 0 0 0 0 19 19
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 14 1 0 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 0 0 7 1 5 0 0 0 13
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 13 0 0 0 0 0 13
Revvity Omics, Revvity 0 0 12 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 6 0 0 0 10
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 6 0 0 0 10
Baylor Genetics 1 0 7 0 0 0 0 0 8
OMIM 3 0 0 0 0 5 0 0 8
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 5 0 0 0 0 0 7
Genetics, Bhagwan Mahavir Medical Research Centre 0 0 0 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 6 6
Laboratory of Urology, Hospital Clinic de Barcelona 6 0 0 0 0 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 5 0 0 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 1 0 0 0 4
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 4 0 0 0 0 0 4
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 4 4
3DMed Clinical Laboratory Inc 2 0 1 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 0 3
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 1 2 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 0 0 3
CIViC Knowledgebase, Washington University School of Medicine 2 0 0 0 0 0 0 0 2
ClinPGx 0 0 0 0 0 2 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Institute of Medical Sciences, Banaras Hindu University 0 1 0 0 0 1 0 0 2
Molecular Diagnostics Laboratory, University of Rochester Medical Center 2 0 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 0 1
BioPath Innovations S.A. 0 0 1 0 0 0 0 0 1
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute 1 0 0 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 1
Dasa 0 0 0 0 1 0 0 0 1
Department of Laboratory Medicine, Maanshan College 1 0 0 0 0 0 0 0 1
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin 0 0 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 1 0 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 1 0 0 0 0 0 1
Thoracic Oncology Program, Dana-Farber Cancer Institute 1 0 0 0 0 0 0 0 1
Wagner Lab, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1

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