ClinVar Miner

Variants in gene CFTR

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Gene type:
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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 likely risk allele risk factor other not provided total
1006 602 1763 1202 143 21 1 2 1 401 4053

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response likely risk allele risk factor other not provided total
Cystic fibrosis 928 491 1426 1123 113 0 1 0 0 395 3694
not provided 193 80 464 90 63 0 0 0 1 2 781
CFTR-related disorders 284 28 347 54 14 0 0 0 0 1 700
not specified 53 18 472 122 49 0 0 0 0 2 676
Bronchiectasis with or without elevated sweat chloride 1 187 96 8 0 0 0 0 0 0 0 291
CFTR-related condition 32 13 62 73 7 0 0 0 0 0 187
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 108 34 0 0 0 0 0 0 0 1 142
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 53 6 71 3 3 0 0 0 0 0 136
Hereditary pancreatitis 30 9 33 19 12 0 0 0 0 4 99
Cystic fibrosis; CFTR-related disorders 68 0 0 0 0 0 0 0 0 0 68
Congenital bilateral aplasia of vas deferens from CFTR mutation 15 14 25 1 0 0 0 0 0 0 54
ivacaftor response - Efficacy 0 0 0 0 0 20 0 0 0 0 20
Inborn genetic diseases 7 0 5 3 0 0 0 0 0 0 15
Obstructive azoospermia 9 2 2 1 0 0 0 0 0 0 14
Infertility disorder 0 0 4 0 0 0 0 0 0 0 4
Lung disease, non-specific 0 0 4 0 0 0 0 0 0 0 4
See cases 2 0 1 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 2 0 0 2
Chronic sinusitis 0 0 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 0 0 2 2
Megacolon 0 0 2 0 0 0 0 0 0 0 2
Spermatogenic failure, Y-linked, 2 1 1 0 0 0 0 0 0 0 0 2
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 0 0 0 0 1
Abnormality of the pancreas 0 0 0 0 0 0 0 0 0 1 1
Breast neoplasm 0 0 0 1 0 0 0 0 0 0 1
Congenital bilateral absence of vas deferens 0 0 0 0 0 0 0 0 0 1 1
Cystic fibrosis; Hereditary pancreatitis 1 0 0 0 0 0 0 0 0 0 1
Duodenal stenosis 0 1 0 0 0 0 0 0 0 0 1
Fetal cystic hygroma 1 0 0 0 0 0 0 0 0 0 1
Male infertility 1 0 0 0 0 0 0 0 0 0 1
Pancreatitis 0 0 0 0 0 0 0 0 0 1 1
Recurrent pancreatitis 1 0 0 0 0 0 0 0 0 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 0 0 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 123
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response likely risk allele risk factor other not provided total
Invitae 487 60 628 840 81 0 0 0 0 0 2096
Ambry Genetics 260 66 838 551 27 0 0 0 0 0 1742
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 265 110 472 87 18 0 0 0 0 0 952
Natera, Inc. 281 23 364 58 21 0 0 0 0 0 746
CFTR-France 370 0 0 0 43 0 0 0 0 0 413
Counsyl 58 111 182 20 0 0 0 0 0 0 371
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 0 371 371
Genome-Nilou Lab 14 32 268 37 5 0 0 0 0 0 344
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 90 26 144 50 32 0 0 0 0 0 342
CFTR2 322 0 9 0 0 0 0 0 0 0 331
Baylor Genetics 211 112 13 1 0 0 0 0 0 0 328
Institute of Human Genetics, University of Leipzig Medical Center 142 90 69 0 2 0 0 0 0 0 302
Quest Diagnostics Nichols Institute San Juan Capistrano 77 22 154 28 14 0 0 0 0 0 295
Eurofins Ntd Llc (ga) 61 9 185 10 25 0 0 0 1 0 291
Mendelics 181 22 50 9 15 0 0 0 0 0 277
Johns Hopkins Genomics, Johns Hopkins University 100 31 85 48 13 0 0 0 0 0 277
PreventionGenetics, part of Exact Sciences 32 13 62 94 18 0 0 0 0 0 219
Mayo Clinic Laboratories, Mayo Clinic 59 16 101 0 0 0 0 0 0 0 176
Illumina Laboratory Services, Illumina 11 4 104 18 7 0 0 0 0 0 144
GeneDx 22 8 55 24 31 0 0 0 0 0 140
Fulgent Genetics, Fulgent Genetics 52 6 71 3 3 0 0 0 0 0 135
Myriad Genetics, Inc. 59 66 0 0 0 0 0 0 0 0 125
OMIM 101 0 0 0 4 0 0 2 0 0 105
CeGaT Center for Human Genetics Tuebingen 39 3 29 24 5 0 0 0 0 0 100
Revvity Omics, Revvity 32 11 27 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 64
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 40 0 5 10 3 0 0 0 0 0 58
Sema4, Sema4 5 4 17 19 10 0 0 0 0 0 55
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 31 0 7 8 5 0 0 0 0 0 51
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 4 10 7 16 0 0 0 0 2 46
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 18 7 4 3 2 0 0 0 0 0 34
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 11 8 7 0 0 0 0 0 0 0 26
GeneReviews 0 0 0 0 1 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 24
MGZ Medical Genetics Center 9 4 10 0 0 0 0 0 0 0 23
PharmGKB 0 0 0 0 0 21 0 0 0 0 21
Clinical Genetics and Genomics, Karolinska University Hospital 17 2 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 17
AiLife Diagnostics, AiLife Diagnostics 10 4 1 0 0 0 0 0 0 0 15
Institute of Reproductive Genetics, University of Münster 9 2 2 1 0 0 0 0 0 0 14
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 7 3 1 0 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 1 1 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 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 5 2 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 0 4 0 0 0 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 9 9
3billion 6 1 2 0 0 0 0 0 0 0 9
Arcensus 4 4 0 0 0 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 2 1 0 0 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 0 0 0 0 7
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 6 0 0 0 0 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 2 1 4 0 0 0 0 0 0 0 7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 3 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 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 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 6
Genetics and Molecular Pathology, SA Pathology 2 0 3 1 0 0 0 0 0 0 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 3 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 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 0 1 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 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 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 5
Suma Genomics 3 0 2 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 4 0 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 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 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 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 4 0 0 0 0 0 0 0 0 0 4
Pars Genome Lab 1 0 3 0 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 0 0 0 4
DASA 3 1 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 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 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 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 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 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 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 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 3 3
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 3 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 2
Institute of Human Genetics, Cologne University 2 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 2
SNPedia 0 0 0 0 0 0 0 0 0 2 2
Blueprint Genetics 2 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 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 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 2
SIB Swiss Institute of Bioinformatics 0 0 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 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 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 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 0 0 2
NxGen MDx 0 1 1 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 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 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 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 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 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 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 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 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 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 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 1
Genomics For Life 0 0 1 0 0 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 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 1
Molecular Genetics Lab, CHRU Brest 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 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 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 1
Eurofins-Biomnis 0 1 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 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 0 1

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