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
561 221 433 68 18 6 442 1465

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CFTR 447 177 353 59 15 0 373 1186
CFTR, LOC111674472 57 22 43 1 1 0 44 138
CFTR, LOC111674475 27 4 10 1 1 0 15 50
CFTR, LOC111674477 7 14 14 4 0 0 2 39
CFTR, LOC113664106 14 3 1 0 0 0 7 19
CFTR, LOC111674463 2 0 12 3 0 0 0 17
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
EPHX1 0 0 0 0 0 1 0 1
HFE, LOC108783645 0 0 0 0 0 1 0 1
MBL2 0 0 0 0 0 1 0 1
PLG 0 0 0 0 0 1 0 1
SERPINA1 0 0 0 0 0 1 0 1
TGFB1 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 142 151 229 23 0 0 0 545
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 205 29 67 10 6 0 0 317
Invitae 63 7 135 5 4 0 0 214
Integrated Genetics/Laboratory Corporation of America 86 36 17 6 4 0 0 149
OMIM 128 0 1 0 4 1 0 134
Illumina Clinical Services Laboratory,Illumina 16 4 27 26 0 0 0 73
American College of Medical Genetics and Genomics (ACMG) 23 0 0 0 0 0 0 23
Johns Hopkins Genomics,Johns Hopkins University 9 4 2 1 4 0 0 20
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 3 0 0 0 0 0 8
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 4 1 2 0 0 0 0 7
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
GeniaGeo, Laboratorio Genia 4 1 0 0 0 0 0 5
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 5 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
Institute of Human Genetics,Klinikum rechts der Isar 2 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 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1

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