ClinVar Miner

Variants studied for Cystic fibrosis

Coded as:
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 likely risk allele pathogenic, low penetrance risk factor not provided total
1216 652 2020 1499 138 1 1 6 470 5012

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele pathogenic, low penetrance risk factor not provided total
CFTR 1020 554 1677 1263 113 1 1 0 395 4191
CFTR, LOC111674472 107 60 153 102 8 0 0 0 44 385
CFTR, LOC111674477 21 18 94 59 5 0 0 0 2 172
CFTR, LOC111674475 35 14 42 42 2 0 0 0 20 130
CFTR, LOC111674463 4 1 36 13 8 0 0 0 0 55
CFTR, LOC113664106 17 4 9 15 0 0 0 0 7 44
CFTR, LOC113633877 1 0 1 3 1 0 0 0 1 6
CFTR, LOC113219471 3 0 0 0 0 0 0 0 0 3
CFTR, LOC111674467 0 1 1 0 0 0 0 0 1 2
CFTR, LOC113664106, LOC113664107 2 0 0 0 0 0 0 0 0 2
CFTR, LOC126860160 1 0 1 0 0 0 0 0 0 2
PIK3CG 0 0 2 0 0 0 0 0 0 2
ASZ1, CAPZA2, CAV1, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2 1 0 0 0 0 0 0 0 0 1
CFTR, CTTNBP2 1 0 0 0 0 0 0 0 0 1
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC126860160 1 0 0 0 0 0 0 0 0 1
CFTR, LOC111674468 0 0 0 1 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 0 0 1
CFTR, LOC111674474 0 0 1 0 0 0 0 0 0 1
CFTR, LOC113633874 0 0 1 0 0 0 0 0 0 1
CFTR, LOC113633875 0 0 0 0 1 0 0 0 0 1
CFTR, LOC113633876 0 0 0 1 0 0 0 0 0 1
CLN6 1 0 0 0 0 0 0 0 0 1
EPHX1 0 0 0 0 0 0 0 1 0 1
HFE 0 0 0 0 0 0 0 1 0 1
MBL2 0 0 0 0 0 0 0 1 0 1
PLG 0 0 0 0 0 0 0 1 0 1
SERPINA1 0 0 0 0 0 0 0 1 0 1
SLC11A1 0 0 1 0 0 0 0 0 0 1
TGFB1 0 0 0 0 0 0 0 1 0 1
TSC2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele pathogenic, low penetrance risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 642 77 814 1045 99 0 1 0 0 2678
Ambry Genetics 332 98 1313 866 38 0 0 0 0 2647
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 409 150 4 2 4 0 0 0 0 569
Counsyl 71 141 229 23 0 0 0 0 0 464
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 0 440 440
CFTR2 395 0 11 0 0 0 0 0 0 406
CFTR-France 338 0 0 0 53 0 0 0 0 391
Genome-Nilou Lab 13 30 300 38 6 0 0 0 0 387
Institute of Human Genetics, University of Leipzig Medical Center 177 104 79 1 3 0 0 0 0 364
Johns Hopkins Genomics, Johns Hopkins University 127 36 99 55 18 0 0 0 0 335
Mendelics 207 31 56 14 12 0 0 0 0 320
Natera, Inc. 39 8 131 23 14 0 0 0 0 215
Myriad Genetics, Inc. 77 72 0 0 0 0 0 0 0 149
OMIM 128 0 1 0 4 0 0 1 0 134
Genome Diagnostics Laboratory, The Hospital for Sick Children 43 4 25 3 8 0 0 0 0 83
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 20 11 15 0 1 0 0 0 0 47
Neuberg Centre For Genomic Medicine, NCGM 20 14 10 0 0 0 0 0 0 44
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 33 1 0 0 0 0 0 0 0 34
Baylor Genetics 22 5 3 1 0 0 0 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 7 3 20 1 0 0 0 0 0 31
GeneReviews 0 0 0 0 0 0 0 0 27 27
Illumina Laboratory Services, Illumina 17 4 3 2 0 0 0 0 0 26
American College of Medical Genetics and Genomics (ACMG) 23 0 0 0 0 0 0 0 0 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 3 0 0 0 0 0 0 0 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 6 0 0 0 0 0 0 0 18
MGZ Medical Genetics Center 8 2 6 0 0 0 0 0 0 16
3billion 9 4 2 0 0 0 0 0 0 15
Dr Mariam's Lab, University of the Punjab 0 15 0 0 0 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 2 1 0 0 0 0 0 0 11
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 5 2 1 0 0 0 0 10
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 8 1 0 0 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 2 2 0 0 0 0 0 0 8
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 7 0 0 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 1 4 1 0 0 0 0 0 8
Arcensus 4 4 0 0 0 0 0 0 0 8
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas 6 0 0 0 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 6 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 1 0 0 0 0 0 0 0 6
Pars Genome Lab 1 0 4 0 1 0 0 0 0 6
DASA 5 1 0 0 0 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 2 0 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 0 0 0 5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 3 0 0 0 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 0 0 0 5
Undiagnosed Diseases Network, NIH 5 0 0 0 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 0 0 0 0 0 0 0 0 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 1 0 0 0 0 0 0 0 5
Center for Computational Genomics and Data Science, University of Alabama 0 0 0 0 0 0 0 5 0 5
Suma Genomics 3 0 2 0 0 0 0 0 0 5
Department of Urology, First Affiliated Hospital of Nanjing Medical University 4 1 0 0 0 0 0 0 0 5
NxGen MDx 0 3 1 0 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 2 0 0 0 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 4 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 0 0 0 0 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 2 0 0 0 0 0 0 0 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 1 0 0 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 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 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 2 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 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 0 0 0 2
New York Genome Center 2 0 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 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
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 Medical Genetics and Applied Genomics, University Hospital Tübingen 1 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 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 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 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 0 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 0 0 0 1
Cytogenetics Department, Christian Medical College, Vellore 0 1 0 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 0 0 0 0 0 0 0 1

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