ClinVar Miner

Variants in gene combination CFTR, LOC111674472

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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 drug response risk factor not provided total
110 66 154 98 10 6 1 44 367

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Cystic fibrosis 103 53 128 89 8 0 0 44 337
not provided 23 15 44 7 5 0 0 0 76
CFTR-related disorders 32 7 35 3 0 0 0 0 69
not specified 11 1 38 9 6 0 0 0 65
Bronchiectasis with or without elevated sweat chloride 1 23 13 1 0 0 0 0 0 37
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 18 7 0 0 0 0 0 0 25
CFTR-related condition 3 2 5 8 0 0 0 0 18
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 7 0 7 0 0 0 0 0 14
Cystic fibrosis; CFTR-related disorders 8 0 0 0 0 0 0 0 8
Hereditary pancreatitis 2 1 3 2 0 0 0 0 6
ivacaftor response - Efficacy 0 0 0 0 0 6 0 0 6
Obstructive azoospermia 3 0 0 0 0 0 0 0 3
Congenital bilateral absence of vas deferens 1 0 0 0 0 0 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 0 0 0 0 1
Hypertrypsinemia, neonatal, susceptibility to 0 0 0 0 0 0 1 0 1
Infertility disorder 0 0 1 0 0 0 0 0 1
Pancreatitis 0 0 1 0 0 0 0 0 1
Pancreatitis, idiopathic, susceptibility to 0 0 0 0 0 0 1 0 1
Schizophrenia 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 54 11 60 71 5 0 0 0 201
Ambry Genetics 28 11 66 44 2 0 0 0 151
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 18 39 8 6 0 0 0 98
Natera, Inc. 26 3 37 5 1 0 0 0 72
CFTR-France 50 0 0 0 5 0 0 0 55
Mendelics 27 2 15 0 1 0 0 0 45
Baylor Genetics 27 19 1 0 0 0 0 0 44
Counsyl 6 15 23 0 0 0 0 0 44
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 44 44
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 17 2 13 5 3 0 0 0 40
CFTR2 37 0 1 0 0 0 0 0 38
Institute of Human Genetics, University of Leipzig Medical Center 15 9 7 1 0 0 0 0 32
Eurofins Ntd Llc (ga) 9 3 17 0 2 0 0 0 31
Quest Diagnostics Nichols Institute San Juan Capistrano 5 5 17 2 2 0 0 0 31
Johns Hopkins Genomics, Johns Hopkins University 16 4 5 2 2 0 0 0 29
Genome-Nilou Lab 0 2 20 1 0 0 0 0 23
PreventionGenetics, part of Exact Sciences 3 2 5 8 1 0 0 0 19
Mayo Clinic Laboratories, Mayo Clinic 7 3 9 0 0 0 0 0 19
GeneDx 3 2 6 3 2 0 0 0 16
Fulgent Genetics, Fulgent Genetics 7 0 7 0 0 0 0 0 14
OMIM 12 0 0 0 0 0 1 0 13
Genome Diagnostics Laboratory, The Hospital for Sick Children 6 5 8 1 0 0 0 0 13
Illumina Laboratory Services, Illumina 2 0 9 1 0 0 0 0 12
CeGaT Center for Human Genetics Tuebingen 4 0 4 3 1 0 0 0 12
Myriad Genetics, Inc. 7 3 0 0 0 0 0 0 10
Revvity Omics, Revvity 3 2 4 0 0 0 0 0 9
PharmGKB 0 0 0 0 0 6 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 1 0 1 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 1 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 1 1 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 1 1 0 0 0 4
MGZ Medical Genetics Center 2 0 2 0 0 0 0 0 4
Sema4, Sema4 0 1 0 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 2 0 0 0 0 0 3
Institute of Reproductive Genetics, University of Münster 3 0 0 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 1 0 0 0 0 2
DASA 2 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Christian Medical College, Vellore 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 0 1
MAGI's Lab - Research, MAGI Group 0 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 0 1

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