ClinVar Miner

Variants in gene CFTR

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Minimum submission review status: Collection method:
Minimum conflict level:
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
453 216 611 107 55 23 2 1 375 1447

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Cystic fibrosis 426 170 317 75 34 0 0 0 372 1155
not provided 97 36 308 24 19 0 0 1 2 448
not specified 45 18 127 48 39 0 0 0 2 246
Hereditary pancreatitis 29 2 9 0 4 0 0 0 0 43
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 21 2 8 0 0 0 0 0 0 31
ivacaftor response - Efficacy 0 0 0 0 0 21 0 0 0 21
Congenital bilateral absence of the vas deferens 7 6 0 0 0 0 0 0 0 13
Inborn genetic diseases 4 1 2 0 0 0 0 0 0 7
Lung disease, non-specific 0 0 4 0 0 0 0 0 0 4
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
Bronchiectasis with or without elevated sweat chloride 1 1 0 0 0 0 0 0 0 0 1
Cystic fibrosis; Congenital bilateral absence of the vas deferens 0 1 0 0 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
Pancreatitis 1 0 0 0 0 0 0 0 0 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: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Counsyl 96 117 182 20 0 0 0 0 0 415
Integrated Genetics/Laboratory Corporation of America 103 47 199 16 12 0 0 0 0 377
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 289 0 0 0 0 0 0 0 0 289
Mendelics 149 23 41 0 0 0 0 0 0 213
Invitae 30 4 78 29 33 0 0 0 0 174
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 42 8 52 17 16 0 0 0 0 135
Quest Diagnostics Nichols Institute San Juan Capistrano 37 18 61 11 8 0 0 0 0 133
OMIM 102 0 0 0 4 0 2 0 0 106
Illumina Clinical Services Laboratory,Illumina 11 4 25 21 0 0 0 0 0 61
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 4 9 6 14 0 0 0 2 38
PreventionGenetics 0 0 0 21 12 0 0 0 0 33
GeneDx 13 1 13 2 3 0 0 0 0 32
Fulgent Genetics 21 2 8 0 0 0 0 0 0 31
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
American College of Medical Genetics and Genomics (ACMG) 17 0 0 0 0 0 0 0 0 17
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 1 6 0 0 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 1 0 1 5 0 0 0 0 0 7
Ambry Genetics 4 1 2 0 0 0 0 0 0 7
GeneReviews 3 0 0 0 3 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 0 1 0 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 0 6
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 0 0 0 5
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 1 2 0 0 0 0 5
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
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
SNPedia 0 0 0 0 0 0 0 0 2 2
Blueprint Genetics, 2 0 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 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
Institute of Human Genetics,Klinikum rechts der Isar 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 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 1 1

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