ClinVar Miner

Variants in gene CFTR

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Minimum submission review status: Collection method:
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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 likely risk allele pathogenic, low penetrance risk factor other not provided total
1098 697 2050 1349 143 21 1 1 2 1 402 4616

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response likely risk allele pathogenic, low penetrance risk factor other not provided total
Cystic fibrosis 1020 554 1677 1263 113 0 1 1 0 0 395 4191
not provided 214 88 500 109 66 0 0 0 0 1 3 855
CFTR-related disorder 297 42 399 127 20 0 0 0 0 0 1 842
not specified 45 14 565 169 50 0 0 0 0 0 2 806
Bronchiectasis with or without elevated sweat chloride 1 222 118 10 0 0 0 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 119 84 84 4 3 0 0 0 0 0 0 289
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 110 35 1 0 0 0 0 0 0 0 1 145
Hereditary pancreatitis 31 11 33 19 12 0 0 0 0 0 4 102
Cystic fibrosis; CFTR-related disorder 68 0 0 0 0 0 0 0 0 0 0 68
Congenital bilateral aplasia of vas deferens from CFTR mutation 20 14 27 1 0 0 0 0 0 0 0 60
ivacaftor response - Efficacy 0 0 0 0 0 20 0 0 0 0 0 20
Obstructive azoospermia 9 2 2 1 0 0 0 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 0 0 0 8
Inborn genetic diseases 1 0 1 3 0 0 0 0 0 0 0 5
Infertility disorder 0 0 4 0 0 0 0 0 0 0 0 4
Lung disease, non-specific 0 0 4 0 0 0 0 0 0 0 0 4
See cases 2 0 1 0 0 0 0 0 0 0 0 3
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 0 0 0 2 0 0 2
Chronic sinusitis 0 0 2 0 0 0 0 0 0 0 0 2
Cystic fibrosis; Hereditary pancreatitis 2 0 0 0 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 0 0 0 2 2
Megacolon 0 0 2 0 0 0 0 0 0 0 0 2
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 1 1 0 0 0 0 0 0 0 0 0 2
Spermatogenic failure, Y-linked, 2 1 1 0 0 0 0 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 0 0 0 0 0 1
Abnormality of the pancreas 0 0 0 0 0 0 0 0 0 0 1 1
Breast neoplasm 0 0 0 1 0 0 0 0 0 0 0 1
Chronic pancreatitis 0 0 1 0 0 0 0 0 0 0 0 1
Congenital bilateral absence of vas deferens 0 0 0 0 0 0 0 0 0 0 1 1
Duodenal stenosis 0 1 0 0 0 0 0 0 0 0 0 1
Fetal cystic hygroma 1 0 0 0 0 0 0 0 0 0 0 1
Hereditary nonpolyposis colon cancer 1 0 0 0 0 0 0 0 0 0 0 1
Male infertility 1 0 0 0 0 0 0 0 0 0 0 1
Pancreatitis 0 0 0 0 0 0 0 0 0 0 1 1
Recurrent pancreatitis 1 0 0 0 0 0 0 0 0 0 0 1
Respiratory ciliopathies including non-CF bronchiectasis 1 0 0 0 0 0 0 0 0 0 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 0 0 0 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 138
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response likely risk allele pathogenic, low penetrance risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 529 62 690 874 82 0 0 1 0 0 0 2238
Ambry Genetics 279 77 1100 741 27 0 0 0 0 0 0 2224
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 383 136 559 137 20 0 0 0 0 0 0 1235
Natera, Inc. 281 23 364 58 21 0 0 0 0 0 0 746
CFTR-France 369 0 0 0 44 0 0 0 0 0 0 413
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 98 28 162 57 33 0 0 0 0 0 0 378
Baylor Genetics 241 128 14 1 0 0 0 0 0 0 0 375
Counsyl 58 111 182 20 0 0 0 0 0 0 0 371
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 0 0 371 371
Genome-Nilou Lab 14 31 268 37 5 0 0 0 0 0 0 344
CFTR2 322 0 9 0 0 0 0 0 0 0 0 331
Quest Diagnostics Nichols Institute San Juan Capistrano 88 25 159 29 14 0 0 0 0 0 0 315
Institute of Human Genetics, University of Leipzig Medical Center 150 93 70 0 2 0 0 0 0 0 0 314
Eurofins Ntd Llc (ga) 61 9 185 10 25 0 0 0 0 1 0 291
PreventionGenetics, part of Exact Sciences 56 15 91 103 19 0 0 0 0 0 0 284
Mendelics 181 28 44 14 15 0 0 0 0 0 0 282
Johns Hopkins Genomics, Johns Hopkins University 100 31 85 48 13 0 0 0 0 0 0 277
Fulgent Genetics, Fulgent Genetics 111 77 80 4 3 0 0 0 0 0 0 275
Mayo Clinic Laboratories, Mayo Clinic 70 17 122 0 0 0 0 0 0 0 0 209
GeneDx 33 11 94 24 31 0 0 0 0 0 0 193
Illumina Laboratory Services, Illumina 13 4 94 17 6 0 0 0 0 0 0 134
CeGaT Center for Human Genetics Tuebingen 49 6 36 32 5 0 0 0 0 0 0 128
Myriad Genetics, Inc. 59 66 0 0 0 0 0 0 0 0 0 125
OMIM 100 0 0 0 4 0 0 0 2 0 0 104
Revvity Omics, Revvity 32 11 27 0 0 0 0 0 0 0 0 70
Genome Diagnostics Laboratory, The Hospital for Sick Children 34 11 21 1 7 0 0 0 0 0 0 64
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 40 0 5 10 3 0 0 0 0 0 0 58
Sema4, Sema4 5 4 17 19 10 0 0 0 0 0 0 55
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 5 10 7 17 0 0 0 0 0 2 53
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 31 0 7 8 5 0 0 0 0 0 0 51
Department of Pathology and Laboratory Medicine, Sinai Health System 16 5 21 1 0 0 0 0 0 0 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 10 14 18 0 0 0 0 0 0 42
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 18 10 12 0 1 0 0 0 0 0 0 41
Neuberg Centre For Genomic Medicine, NCGM 17 12 12 0 0 0 0 0 0 0 0 41
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 18 7 4 3 2 0 0 0 0 0 0 34
Clinical Genetics Laboratory, Skane University Hospital Lund 12 4 8 2 2 0 0 0 0 0 0 28
GeneReviews 0 0 0 0 1 0 0 0 0 0 24 25
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 12 4 2 3 3 0 0 0 0 0 0 24
MGZ Medical Genetics Center 9 4 10 0 0 0 0 0 0 0 0 23
PharmGKB 0 0 0 0 0 21 0 0 0 0 0 21
Clinical Genetics and Genomics, Karolinska University Hospital 17 2 0 0 0 0 0 0 0 0 0 19
American College of Medical Genetics and Genomics (ACMG) 17 0 0 0 0 0 0 0 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 6 3 6 0 0 0 0 0 0 0 0 15
AiLife Diagnostics, AiLife Diagnostics 10 4 1 0 0 0 0 0 0 0 0 15
Dr Mariam's Lab, University of the Punjab 0 15 0 0 0 0 0 0 0 0 0 15
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 8 3 1 0 0 0 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 11 3 0 0 0 0 0 0 0 0 0 14
Institute of Reproductive Genetics, University of Münster 9 2 2 1 0 0 0 0 0 0 0 14
3billion 9 2 3 0 0 0 0 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 1 1 0 0 0 0 0 0 0 0 13
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 2 6 0 0 0 0 0 0 0 0 12
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 7 2 3 0 0 0 0 0 0 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 3 4 0 0 0 0 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 5 2 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 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 0 0 0 10
Arcensus 4 4 0 0 0 0 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 0 0 0 0 0 7
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 6 0 0 0 0 0 0 0 0 0 7
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas 6 0 0 0 0 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 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 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 2 0 3 1 0 0 0 0 0 0 0 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 1 2 0 0 0 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 4 0 0 0 0 0 0 0 0 6
Suma Genomics 4 0 2 0 0 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 1 0 0 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 0 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 5 0 0 0 0 0 0 0 0 0 0 5
MAGI's Lab - Research, MAGI Group 1 0 4 0 0 0 0 0 0 0 0 5
Department of Urology, First Affiliated Hospital of Nanjing Medical University 3 2 0 0 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 4 0 0 0 0 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 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 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 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 0 0 0 0 0 0 0 0 4
Pars Genome Lab 1 0 3 0 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 0 0 0 0 4
DASA 3 1 0 0 0 0 0 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 0 0 0 0 0 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 0 0 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 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 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 1 0 0 0 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 0 0 0 0 0 3
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 3 0 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 0 0 0 2
SNPedia 0 0 0 0 0 0 0 0 0 0 2 2
Blueprint Genetics 2 0 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 0 0 0 0 0 2
Clinical Genetics, Erasmus University Medical Center 0 0 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 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 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 0 0 0 2
NxGen MDx 0 1 1 0 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 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 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 2 0 0 0 0 0 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 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 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 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 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 0 0 1
Genomics For Life 0 0 1 0 0 0 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 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 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 0 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 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 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 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 0 0 0 1

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