ClinVar Miner

Variants in gene combination CFTR, LOC113664106

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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 drug response not provided total
14 2 3 0 0 1 7 21

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance drug response not provided total
Cystic fibrosis 14 2 1 0 7 19
not provided 1 0 2 0 0 3
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 1 0 0 0 0 1
ivacaftor response - Efficacy 0 0 0 1 0 1
not specified 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance drug response not provided total
CFTR2 10 0 0 0 0 10
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 7 7
Counsyl 2 2 1 0 0 5
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 4
Invitae 3 0 0 0 0 3
Mendelics 2 0 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 0 0 2
OMIM 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
PharmGKB 0 0 0 1 0 1

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