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 risk factor other not provided total
707 318 900 319 98 23 2 1 381 2078

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Cystic fibrosis 635 256 540 235 76 0 0 0 377 1701
not provided 126 39 323 62 15 0 0 1 2 520
not specified 66 24 228 92 47 0 0 0 2 422
Inborn genetic diseases 22 11 84 32 12 0 0 0 0 161
CFTR-related disorders 45 1 99 15 8 0 0 0 0 160
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 109 33 0 0 0 0 0 0 0 142
none provided 37 5 52 17 22 0 0 0 0 133
Cystic fibrosis; CFTR-related disorders 59 0 0 0 0 0 0 0 0 59
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 21 2 8 0 0 0 0 0 0 31
ivacaftor response - Efficacy 0 0 0 0 0 21 0 0 0 21
Hereditary pancreatitis 7 0 9 0 4 0 0 0 0 20
Congenital bilateral aplasia of vas deferens from CFTR mutation 10 6 2 0 0 0 0 0 0 18
Infertility 0 0 4 0 0 0 0 0 0 4
Lung disease, non-specific 0 0 4 0 0 0 0 0 0 4
Aganglionic megacolon 0 0 2 0 0 0 0 0 0 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 0 2 0 0 2
Chronic sinusitis 0 0 2 0 0 0 0 0 0 2
Abnormality of the pancreas 0 0 0 0 0 0 0 0 1 1
Breast neoplasm 0 0 0 1 0 0 0 0 0 1
Duodenal stenosis 0 1 0 0 0 0 0 0 0 1
Ivacaftor response 0 0 0 0 0 1 0 0 0 1
Male infertility 1 0 0 0 0 0 0 0 0 1
Pancreatitis 0 0 0 0 0 0 0 0 1 1
Recurrent pancreatitis 1 0 0 0 0 0 0 0 0 1
ataluren response - Efficacy 0 0 0 0 0 1 0 0 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Invitae 251 39 269 210 43 0 0 0 0 812
Integrated Genetics/Laboratory Corporation of America 153 66 244 57 14 0 0 0 0 534
CFTR-France 339 0 0 0 40 0 0 0 0 379
Counsyl 58 111 182 20 0 0 0 0 0 371
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 371 371
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 61 9 187 10 25 0 0 1 0 293
CFTR2 288 0 0 0 0 0 0 0 0 288
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 82 20 118 36 29 0 0 0 0 285
Mendelics 158 22 50 10 5 0 0 0 0 245
Quest Diagnostics Nichols Institute San Juan Capistrano 58 20 103 18 10 0 0 0 0 207
Natera, Inc. 52 7 114 19 13 0 0 0 0 204
Ambry Genetics 22 11 84 32 12 0 0 0 0 161
Baylor Genetics 115 32 5 0 0 0 0 0 0 151
Illumina Clinical Services Laboratory,Illumina 11 4 105 18 7 0 0 0 0 145
Johns Hopkins Genomics, Johns Hopkins University 62 17 31 13 10 0 0 0 0 133
OMIM 101 0 0 0 4 0 2 0 0 105
Myriad Women's Health, Inc. 59 31 0 0 0 0 0 0 0 90
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 4 10 7 16 0 0 0 2 46
CeGaT Praxis fuer Humangenetik Tuebingen 19 1 19 2 0 0 0 0 0 41
GeneDx 13 1 13 2 4 0 0 0 0 33
PreventionGenetics, PreventionGenetics 0 0 0 21 12 0 0 0 0 33
Fulgent Genetics,Fulgent Genetics 21 2 8 0 0 0 0 0 0 31
GeneReviews 20 0 0 2 3 0 0 0 1 26
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 12 4 2 3 3 0 0 0 0 24
PharmGKB 0 0 0 0 0 23 0 0 0 23
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 17 2 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 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 1 1 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 12
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 2 1 4 0 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 7 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 3 1 1 0 0 0 0 6
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 6 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 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 3 0 0 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 1 0 0 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 0 0 5
MAGI's Lab - Research,MAGI Group 1 0 4 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 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 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 1 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 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 2 0 0 0 0 0 0 0 0 2
SNPedia 0 0 0 0 0 0 0 0 2 2
Blueprint Genetics 2 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 0 0 0 2
Clinical Genetics, Erasmus University Medical Center 0 0 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 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 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 0 2
NxGen MDx 0 1 1 0 0 0 0 0 0 2
Lineagen, Inc 1 0 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 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 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 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 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 0 0 1
Genomics For Life 0 0 1 0 0 0 0 0 0 1
ACT Genomics, 0 0 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 0 0 1

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