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
654 257 730 194 96 23 2 1 376 1777

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Cystic fibrosis 571 187 383 100 74 0 0 0 373 1377
not provided 108 39 306 58 16 0 0 1 2 489
not specified 80 29 164 82 47 0 0 0 2 357
CFTR-related disorders 45 1 96 15 8 0 0 0 0 158
Inborn genetic diseases 20 12 85 29 12 0 0 0 0 158
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 109 33 0 0 0 0 0 0 0 142
Cystic fibrosis; CFTR-related disorders 60 0 0 0 0 0 0 0 0 60
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 4 0 5 0 4 0 0 0 0 13
Congenital bilateral aplasia of vas deferens from CFTR mutation 6 5 0 0 0 0 0 0 0 11
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
Pancreatitis 1 0 0 0 0 0 0 0 1 2
Duodenal stenosis 0 1 0 0 0 0 0 0 0 1
Ivacaftor response 0 0 0 0 0 1 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: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other not provided total
Counsyl 111 121 182 20 0 0 0 0 0 434
CFTR-France 339 0 0 0 40 0 0 0 0 379
Integrated Genetics/Laboratory Corporation of America 103 48 170 44 12 0 0 0 0 377
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 371 371
Invitae 68 12 152 95 42 0 0 0 0 369
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
Mendelics 160 23 49 10 5 0 0 0 0 247
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 62 18 83 28 27 0 0 0 0 218
Quest Diagnostics Nichols Institute San Juan Capistrano 49 20 81 12 9 0 0 0 0 169
Ambry Genetics 20 12 85 29 12 0 0 0 0 158
Illumina Clinical Services Laboratory,Illumina 11 4 104 18 7 0 0 0 0 144
Baylor Genetics 109 32 0 0 0 0 0 0 0 141
OMIM 102 0 0 0 4 0 2 0 0 106
Myriad Women's Health, Inc. 59 9 0 0 0 0 0 0 0 68
Johns Hopkins Genomics,Johns Hopkins University 22 5 9 5 5 0 0 0 0 46
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 5 10 7 16 0 0 0 2 45
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
CeGaT Praxis fuer Humangenetik Tuebingen 14 1 10 3 0 0 0 0 0 28
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
Natera Inc 16 1 4 1 1 0 0 0 0 23
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
GeneReviews 3 0 0 0 3 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
GeniaGeo, Laboratorio Genia 4 1 0 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 3 3
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
SIB Swiss Institute of Bioinformatics 0 0 2 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
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 0 0 1
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 0 0 1

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