ClinVar Miner

Variants in gene CFTR

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Minimum submission review status: Collection method:
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
1177 890 2458 1473 148 21 1 420 5277

Condition and significance breakdown #

Total conditions: 66
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Cystic fibrosis 1063 590 1874 1377 115 0 0 395 4551
CFTR-related disorder 445 328 579 130 20 0 0 1 1440
not provided 232 99 554 126 67 0 1 5 941
not specified 45 12 612 183 53 0 0 2 868
Bronchiectasis with or without elevated sweat chloride 1 222 118 10 0 0 0 0 0 350
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 121 90 86 4 3 0 0 0 298
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 120 48 2 0 0 0 0 1 165
Hereditary pancreatitis 32 12 32 19 12 0 0 4 102
Cystic fibrosis; CFTR-related disorder 68 0 0 0 0 0 0 0 68
Congenital bilateral aplasia of vas deferens from CFTR mutation 21 16 27 1 0 0 0 0 63
Cystic fibrosis diagnostic test 23 2 3 0 0 0 0 0 28
ivacaftor response - Efficacy 0 0 0 0 0 20 0 0 20
Obstructive azoospermia 9 2 2 1 0 0 0 0 14
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 7 1 0 0 0 0 0 0 8
Respiratory ciliopathies including non-CF bronchiectasis 5 2 0 0 0 0 0 0 7
Fetal anomalies with a likely genetic cause 2 3 1 0 0 0 0 0 6
Inborn genetic diseases 1 0 1 3 0 0 0 0 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 0 5 5
Cholangiocarcinoma 0 0 0 0 0 0 0 4 4
Familial pancreatic carcinoma 0 0 0 0 0 0 0 4 4
Infertility disorder 0 0 4 0 0 0 0 0 4
Lung disease, non-specific 0 0 4 0 0 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 0 0 4 4
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 0 4 4
Colon adenocarcinoma 0 0 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 0 0 3 3
See cases 2 0 1 0 0 0 0 0 3
Bronchiectasis with or without elevated sweat chloride 1, modifier of 2 0 0 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 0 0 2 2
Chronic sinusitis 0 0 2 0 0 0 0 0 2
Cystic fibrosis; Hereditary pancreatitis 2 0 0 0 0 0 0 0 2
Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 0 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 0 0 2 2
Megacolon 0 0 2 0 0 0 0 0 2
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 1 1 0 0 0 0 0 0 2
Spermatogenic failure, Y-linked, 2 1 1 0 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 0 0 1
Abnormality of the pancreas 0 0 0 0 0 0 0 1 1
Acute myeloid leukemia 0 0 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 0 1 1
Breast neoplasm 0 0 0 1 0 0 0 0 1
Chronic pancreatitis 0 0 1 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 0 0 1 1
Congenital bilateral absence of vas deferens 0 0 0 0 0 0 0 1 1
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation; Chronic pancreatitis 0 0 0 0 0 0 0 1 1
Duodenal stenosis 0 1 0 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 0 0 1 1
Fetal cystic hygroma 1 0 0 0 0 0 0 0 1
Hereditary nonpolyposis colon cancer 1 0 0 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 0 0 1 1
Male infertility 1 0 0 0 0 0 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 0 0 0 0 1
Nephronophthisis 14 0 0 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 0 0 1 1
Pancreatitis 0 0 0 0 0 0 0 1 1
Recurrent pancreatitis 1 0 0 0 0 0 0 0 1
Thymoma 0 0 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 0 0 1 1
Von Hippel-Lindau syndrome 0 0 1 0 0 0 0 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 153
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response other not provided total
Ambry Genetics 294 76 1276 874 27 0 0 0 2547
Labcorp Genetics (formerly Invitae), Labcorp 551 74 718 903 84 0 0 0 2330
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 437 150 608 150 21 0 0 0 1366
Natera, Inc. 419 318 540 61 21 0 0 0 1358
CFTR-France 369 0 0 0 44 0 0 0 413
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 101 29 176 63 33 0 0 0 402
Baylor Genetics 241 128 14 1 0 0 0 0 375
Johns Hopkins Genomics, Johns Hopkins University 125 43 117 70 17 0 0 0 372
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 371 371
Counsyl 58 111 182 20 0 0 0 0 371
Quest Diagnostics Nichols Institute San Juan Capistrano 98 27 182 34 15 0 0 0 356
Genome-Nilou Lab 14 31 268 37 5 0 0 0 344
CFTR2 322 0 9 0 0 0 0 0 331
Institute of Human Genetics, University of Leipzig Medical Center 158 96 73 0 2 0 0 0 328
Eurofins Ntd Llc (ga) 61 9 185 10 25 0 1 0 291
PreventionGenetics, part of Exact Sciences 56 15 91 103 19 0 0 0 284
Mendelics 181 28 45 14 14 0 0 0 282
Fulgent Genetics, Fulgent Genetics 111 77 80 4 3 0 0 0 275
Mayo Clinic Laboratories, Mayo Clinic 72 18 146 25 13 0 0 0 274
GeneDx 37 17 109 24 31 0 0 0 218
CeGaT Center for Human Genetics Tuebingen 52 6 38 34 8 0 0 0 138
Illumina Laboratory Services, Illumina 13 4 92 15 6 0 0 0 130
Myriad Genetics, Inc. 59 66 0 0 0 0 0 0 125
OMIM 100 0 0 0 4 0 0 0 104
Revvity Omics, Revvity 41 14 28 0 0 0 0 0 83
Genome Diagnostics Laboratory, The Hospital for Sick Children 34 11 21 1 7 0 0 0 64
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 40 0 5 10 3 0 0 0 58
Sema4, Sema4 5 4 17 19 10 0 0 0 55
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 5 10 7 17 0 0 2 53
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 31 0 7 8 5 0 0 0 51
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 22 12 15 0 1 0 0 0 50
Dasa 41 2 1 0 0 0 0 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 16 5 21 1 0 0 0 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 10 14 18 0 0 0 42
Neuberg Centre For Genomic Medicine, NCGM 17 12 12 0 0 0 0 0 41
3billion 23 2 10 0 0 0 0 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 18 7 4 3 2 0 0 0 34
NHS Central & South Genomic Laboratory Hub 28 4 2 0 0 0 0 0 34
Otogenetics 23 6 0 0 0 0 0 0 29
Clinical Genetics Laboratory, Skane University Hospital Lund 12 4 8 2 2 0 0 0 28
Dr Mariam's Lab, University of the Punjab 0 27 0 0 0 0 0 0 27
GeneReviews 0 0 0 0 1 0 0 24 25
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 12 4 2 3 3 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 22 2 0 0 0 0 0 0 24
MGZ Medical Genetics Center 9 4 10 0 0 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 7 6 9 0 0 0 0 0 22
ClinPGx 0 0 0 0 0 21 0 0 21
First Genomix Gene Laboratory, Genetic Diagnostics Department 13 7 0 0 0 0 0 0 20
Clinical Genetics and Genomics, Karolinska University Hospital 17 2 0 0 0 0 0 0 19
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 0 18 18
American College of Medical Genetics and Genomics (ACMG) 17 0 0 0 0 0 0 0 17
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 10 3 1 0 0 0 16
AiLife Diagnostics, AiLife Diagnostics 10 4 1 0 0 0 0 0 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 3 7 0 0 0 0 0 14
Institute of Reproductive Genetics, University of Münster 9 2 2 1 0 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 3 0 0 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 1 1 0 0 0 0 0 13
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 2 6 0 0 0 0 0 12
Dubai Health Genomic Medicine Center, Dubai Health 7 2 3 0 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 5 2 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 0 4 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 3 0 1 5 0 0 0 0 9
Arcensus 4 4 0 0 0 0 0 0 8
Department of Human Genetics, Hannover Medical School 4 1 3 0 0 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 3 2 0 1 2 0 0 0 8
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 6 0 0 0 0 0 0 7
Institute of Immunology and Genetics Kaiserslautern 5 1 1 0 0 0 0 0 7
Department of Genetics, Sultan Qaboos University Hospital 3 1 2 0 0 0 0 0 6
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 3 1 2 0 0 0 0 0 6
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 3 1 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 0 3 1 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 6 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 0 0 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 3 1 2 0 0 0 0 0 6
Suma Genomics 4 0 2 0 0 0 0 0 6
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas 6 0 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 4 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 1 0 0 0 0 0 5
Department of Urology, First Affiliated Hospital of Nanjing Medical University 3 2 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 1 0 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 5 0 0 0 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 0 5
MAGI's Lab - Research, MAGI Group 1 0 4 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 1 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 4 0 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 0 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 0 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 2 0 0 0 0 0 0 4
Pars Genome Lab 1 0 3 0 0 0 0 0 4
Variantyx, Inc. 4 0 0 0 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 2 1 0 0 0 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 0 0 3
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 0 2
Blueprint Genetics 2 0 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 1 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 0 0 2
Clinical Genetics, Erasmus University Medical Center 0 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 2 0 0 0 0 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 0 0 0 0 0 0 2
NxGen MDx 0 1 1 0 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 0 0 2
Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul 0 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 0 0 2
SNPedia 0 0 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 0 2
ACT Genomics, 0 0 0 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul 1 0 0 0 0 0 0 0 1
Department of Genomics, ADN Uruguay 1 0 0 0 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 0 0 0 0 0 1
Genomics For Life 0 0 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 1 0 0 0 0 0 0 0 1
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 0 1

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