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
63 25 66 8 5 6 1 44 165

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Cystic fibrosis 59 21 42 3 3 0 0 44 139
not provided 16 7 31 1 3 0 0 0 47
not specified 8 1 15 7 4 0 0 0 30
ivacaftor response - Efficacy 0 0 0 0 0 6 0 0 6
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2 0 0 0 0 0 0 0 2
Congenital bilateral absence of the vas deferens 0 1 0 0 0 0 0 0 1
Cystic fibrosis; Congenital bilateral absence of the vas deferens 1 0 0 0 0 0 0 0 1
Hereditary pancreatitis 0 0 1 0 0 0 0 0 1
Hypertrypsinemia, neonatal, susceptibility to 0 0 0 0 0 0 1 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

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Integrated Genetics/Laboratory Corporation of America 15 7 22 1 4 0 0 0 49
Counsyl 10 14 23 0 0 0 0 0 47
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 44 44
Mendelics 27 2 13 0 0 0 0 0 42
CFTR2 34 0 0 0 0 0 0 0 34
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 3 17 0 2 0 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 1 5 2 3 0 0 0 21
Invitae 4 0 12 2 2 0 0 0 20
Quest Diagnostics Nichols Institute San Juan Capistrano 2 3 7 2 2 0 0 0 16
OMIM 11 0 0 0 0 0 1 0 12
PharmGKB 0 0 0 0 0 6 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 1 1 0 0 0 4
GeneDx 2 0 2 0 0 0 0 0 4
Illumina Clinical Services Laboratory,Illumina 2 0 1 1 0 0 0 0 4
PreventionGenetics 0 0 0 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 0 1
Blueprint Genetics, 0 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 0 1

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