ClinVar Miner

Variants studied for cystic fibrosis

Included ClinVar conditions (3):
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 risk factor not provided total
552 214 434 90 41 1 442 1478

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CFTR 437 173 356 75 34 0 373 1201
CFTR, LOC111674472 58 21 42 3 3 0 44 138
CFTR, LOC111674475 27 4 10 2 1 0 15 51
CFTR, LOC111674477 7 13 13 6 2 0 2 40
CFTR, LOC113664106 14 2 1 0 0 0 7 19
CFTR, LOC111674463 2 0 12 4 0 0 0 18
CFTR, LOC113219471 2 0 0 0 0 0 0 2
CFTR, LOC113633877 1 0 0 0 1 0 0 2
CFTR, LOC113664106, LOC113664107 2 0 0 0 0 0 0 2
CFTR, LOC111674463, LOC111674464, LOC111674467, LOC111674468, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674477, LOC113219447, LOC113219471, LOC113219472, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107 1 0 0 0 0 0 0 1
CFTR, LOC111674463, LOC111674464, LOC113664106 0 1 0 0 0 0 0 1
CFTR, LOC111674467 0 0 0 0 0 0 1 1
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877 1 0 0 0 0 0 0 1
TGFB1 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 123 145 228 23 0 0 0 519
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 440 440
CFTR2 359 0 0 0 0 0 0 359
Invitae 63 7 138 37 39 0 0 284
Mendelics 195 28 56 0 0 0 0 279
Integrated Genetics/Laboratory Corporation of America 87 34 18 6 4 0 0 149
OMIM 129 0 1 0 4 1 0 135
Illumina Clinical Services Laboratory,Illumina 16 4 27 26 0 0 0 73
Fulgent Genetics,Fulgent Genetics 29 2 8 0 0 0 0 39
American College of Medical Genetics and Genomics (ACMG) 23 0 0 0 0 0 0 23
Johns Hopkins Genomics,Johns Hopkins University 7 3 2 1 4 0 0 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 4 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 0 8
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 1 2 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 0 1 0 0 0 0 6
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 6 0 0 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 0 1 0 0 0 0 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 5 0 0 0 0 0 0 5
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 1 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Center for Precision Medicine,Vanderbilt University Medical Center 2 0 0 0 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 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 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.