ClinVar Miner

Variants in gene combination CFTR, LOC113633877

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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 not provided total
1 1 2 4 1 1 7

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cystic fibrosis 1 0 1 3 1 1 6
Hereditary pancreatitis 1 0 2 0 1 0 4
not specified 1 0 1 0 1 0 3
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 1 0 0 0 2
CFTR-related disorders 1 0 0 1 0 0 2
not provided 1 1 0 0 1 0 2
CFTR-related condition 1 0 0 0 0 0 1
Cystic fibrosis; CFTR-related disorders 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 0 3 1 0 5
Natera, Inc. 1 0 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 0 2
Sema4, Sema4 1 0 0 0 1 0 2
Eurofins Ntd Llc (ga) 1 0 0 0 1 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Athena Diagnostics Inc 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 0 0 1
CFTR2 1 0 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
CFTR-France 1 0 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1

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