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 risk factor not provided total
1117 590 1808 1372 138 1 6 470 4558

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
CFTR 935 499 1508 1155 113 1 0 395 3812
CFTR, LOC111674472 102 52 134 93 8 0 0 44 347
CFTR, LOC111674477 17 20 78 54 5 0 0 2 151
CFTR, LOC111674475 34 14 37 39 2 0 0 20 122
CFTR, LOC111674463 4 0 35 12 8 0 0 0 54
CFTR, LOC113664106 16 4 9 14 0 0 0 7 42
CFTR, LOC113633877 1 0 1 3 1 0 0 1 6
CFTR, LOC113219471 3 0 0 0 0 0 0 0 3
CFTR, LOC111674467 0 1 1 0 0 0 0 1 2
CFTR, LOC113664106, LOC113664107 2 0 0 0 0 0 0 0 2
CFTR, LOC126860160 1 0 1 0 0 0 0 0 2
PIK3CG 0 0 2 0 0 0 0 0 2
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC126860160 1 0 0 0 0 0 0 0 1
CFTR, LOC111674468 0 0 0 1 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 0 1
CFTR, LOC111674474 0 0 1 0 0 0 0 0 1
CFTR, LOC113633874 0 0 1 0 0 0 0 0 1
CFTR, LOC113633875 0 0 0 0 1 0 0 0 1
CFTR, LOC113633876 0 0 0 1 0 0 0 0 1
EPHX1 0 0 0 0 0 0 1 0 1
HFE 0 0 0 0 0 0 1 0 1
MBL2 0 0 0 0 0 0 1 0 1
PLG 0 0 0 0 0 0 1 0 1
SERPINA1 0 0 0 0 0 0 1 0 1
TGFB1 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor not provided total
Invitae 594 76 744 1008 98 0 0 0 2520
Ambry Genetics 314 88 1106 708 38 0 0 0 2254
Counsyl 71 141 229 23 0 0 0 0 464
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 440 440
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 277 122 6 3 4 0 0 0 412
CFTR2 395 0 11 0 0 0 0 0 406
CFTR-France 338 0 0 0 53 0 0 0 391
Genome-Nilou Lab 13 30 300 38 6 0 0 0 387
Institute of Human Genetics, University of Leipzig Medical Center 169 103 78 1 3 0 0 0 354
Johns Hopkins Genomics, Johns Hopkins University 127 36 99 55 18 0 0 0 335
Mendelics 207 25 62 9 12 0 0 0 315
Natera, Inc. 39 8 131 23 14 0 0 0 215
Myriad Genetics, Inc. 77 72 0 0 0 0 0 0 149
OMIM 128 0 1 0 4 0 1 0 134
Genome Diagnostics Laboratory, The Hospital for Sick Children 43 4 25 3 8 0 0 0 83
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 14 10 12 0 1 0 0 0 37
Illumina Laboratory Services, Illumina 16 4 13 3 0 0 0 0 36
Baylor Genetics 21 5 3 1 0 0 0 0 30
Neuberg Centre For Genomic Medicine, NCGM 13 9 6 0 0 0 0 0 28
GeneReviews 0 0 0 0 0 0 0 27 27
American College of Medical Genetics and Genomics (ACMG) 23 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 18
MGZ Medical Genetics Center 8 2 6 0 0 0 0 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 2 1 0 0 0 0 0 11
3billion 6 2 1 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 2 2 0 0 0 0 0 8
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 4 2 1 0 0 0 8
Clinical Genetics Laboratory, Christian Medical College, Vellore 1 7 0 0 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 1 4 1 0 0 0 0 8
Arcensus 4 4 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 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 5 0 1 0 0 0 0 0 6
Pars Genome Lab 1 0 4 0 1 0 0 0 6
DASA 5 1 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 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 5 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 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 0 0 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 5 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 5
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 0 5
Center for Computational Genomics and Data Science, University of Alabama 0 0 0 0 0 0 5 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 2 0 0 0 0 0 4
Suma Genomics 2 0 2 0 0 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 4 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 4 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 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 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 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 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 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 1 0 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 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 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 0 2
Center for Precision Medicine, Vanderbilt University Medical Center 2 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 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 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 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 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 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 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 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 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 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 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 1
Genetic Laboratory, Salmaniya Medical Complex 0 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 1

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