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 risk factor not provided total
542 212 390 90 41 1 441 1427

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CFTR 427 170 316 75 34 0 372 1154
CFTR, LOC111674472 58 22 41 3 3 0 44 137
CFTR, LOC111674475 27 4 10 2 1 0 15 51
CFTR, LOC111674477 7 13 10 6 2 0 2 37
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
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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
Mendelics 195 28 56 0 0 0 0 279
Invitae 48 5 94 37 39 0 0 223
Integrated Genetics/Laboratory Corporation of America 87 35 18 6 4 0 0 150
OMIM 128 0 1 0 4 1 0 134
Illumina Clinical Services Laboratory,Illumina 16 4 27 26 0 0 0 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 38 1 2 0 0 0 0 41
American College of Medical Genetics and Genomics (ACMG) 23 0 0 0 0 0 0 23
HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 0 0 0 0 0 7
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
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 1 2 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
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Center for Precision Medicine,Vanderbilt University Medical Center 2 0 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Core Molecular Diagnostic Lab,McGill University Health Centre 0 0 0 1 0 0 0 1

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