ClinVar Miner

Variants studied for Cystic fibrosis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
1272 697 2263 1639 140 471 5452

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CFTR 1063 590 1874 1377 115 395 4551
CFTR, LOC111674472 109 64 166 115 8 45 414
CFTR, LOC111674477 23 20 110 62 5 2 194
CFTR, LOC111674475 35 15 47 48 2 20 140
CFTR, LOC111674463 4 0 37 13 8 0 56
CFTR, LOC113664106 18 5 12 16 0 7 47
CFTR, LOC113633877 1 0 1 3 1 1 6
CFTR, LOC111674467 1 1 2 0 0 1 4
CFTR, LOC113219471 3 0 1 0 0 0 4
CFTR, LOC113633875 0 0 1 1 1 0 3
CFTR, LOC126860160 1 0 2 0 0 0 3
CFTR, LOC111674468 0 0 1 1 0 0 2
CFTR, LOC111674474 0 0 2 0 0 0 2
CFTR, LOC113633876 0 0 0 2 0 0 2
CFTR, LOC113664106, LOC113664107 2 0 0 0 0 0 2
PIK3CG 0 0 2 0 0 0 2
ASZ1, CAPZA2, CAV1, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2 1 0 0 0 0 0 1
C1QB 0 0 1 0 0 0 1
CFTR, CTTNBP2 1 0 0 0 0 0 1
CFTR, LOC111674464 0 0 0 1 0 0 1
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC126860160 1 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 1
CFTR, LOC113219472 0 0 1 0 0 0 1
CFTR, LOC113633874 0 0 1 0 0 0 1
CHD7 1 0 0 0 0 0 1
CHEK2 0 1 0 0 0 0 1
CLN6 1 0 0 0 0 0 1
EPHX1 1 0 0 0 0 0 1
HFE 1 0 0 0 0 0 1
MBL2 1 0 0 0 0 0 1
PLG 1 0 0 0 0 0 1
SERPINA1 1 0 0 0 0 0 1
SLC11A1 0 0 1 0 0 0 1
TGFB1 1 0 0 0 0 0 1
TSC2 0 0 1 0 0 0 1
TTN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 351 100 1527 1021 38 0 3037
Labcorp Genetics (formerly Invitae), Labcorp 668 92 851 1076 101 0 2788
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 474 165 4 2 4 0 649
Counsyl 71 141 229 23 0 0 464
Johns Hopkins Genomics, Johns Hopkins University 156 52 145 86 23 0 462
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 440 440
CFTR2 395 0 11 0 0 0 406
CFTR-France 338 0 0 0 53 0 391
Genome-Nilou Lab 13 30 300 38 6 0 387
Institute of Human Genetics, University of Leipzig Medical Center 187 108 82 1 4 0 382
Mendelics 207 31 57 14 11 0 320
Natera, Inc. 10 3 129 23 14 0 179
Myriad Genetics, Inc. 77 72 0 0 0 0 149
OMIM 129 0 1 0 4 0 134
Genome Diagnostics Laboratory, The Hospital for Sick Children 43 4 25 3 8 0 83
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 26 13 19 0 1 0 59
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 43 2 0 0 0 0 45
Neuberg Centre For Genomic Medicine, NCGM 20 14 10 0 0 0 44
3billion 24 4 10 0 0 0 38
Baylor Genetics 22 5 3 1 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 7 3 20 1 0 0 31
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 28 2 0 0 0 0 30
Dr Mariam's Lab, University of the Punjab 0 27 0 0 0 0 27
GeneReviews 0 0 0 0 0 27 27
American College of Medical Genetics and Genomics (ACMG) 23 0 0 0 0 0 23
Illumina Laboratory Services, Illumina 17 4 0 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 3 0 0 0 0 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 6 0 0 0 0 18
MGZ Medical Genetics Center 8 2 6 0 0 0 16
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 7 2 1 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 2 1 0 0 0 11
Dubai Health Genomic Medicine Center, Dubai Health 8 1 0 0 0 0 9
Arcensus 4 4 0 0 0 0 8
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 7 0 0 0 0 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 2 2 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 1 4 1 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 8
Department of Human Genetics, Hannover Medical School 4 0 3 0 0 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 1 2 0 0 0 7
Dasa 5 1 0 0 0 0 6
Department of Genetics, Sultan Qaboos University Hospital 5 1 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Institute of Immunology and Genetics Kaiserslautern 5 1 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 2 0 0 0 6
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 4 0 0 0 0 6
Pars Genome Lab 1 0 4 0 1 0 6
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas 6 0 0 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 5 0 0 0 0 0 5
Center for Computational Genomics and Data Science, University of Alabama 5 0 0 0 0 0 5
Department of Urology, First Affiliated Hospital of Nanjing Medical University 4 1 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 1 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 0 0 0 0 0 5
Suma Genomics 3 0 2 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 5
Variantyx, Inc. 4 1 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 0 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 4 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 2 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 1 0 3
Centre of Medical Genetics, University Hospital Muenster 1 0 2 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 2 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 1 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 2 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 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 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 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 1
Cytogenetics Department, Christian Medical College, Vellore 0 1 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 1

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