ClinVar Miner

Variants in gene combination CFTR, LOC111674477

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Minimum submission review status: Collection method:
Minimum conflict level:
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
8 15 26 7 4 2 52

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cystic fibrosis 7 13 13 6 2 2 40
not provided 3 0 12 2 2 0 17
not specified 1 3 8 2 4 0 16
Hereditary pancreatitis 0 0 1 0 0 0 1
Sweat chloride elevation without cystic fibrosis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Integrated Genetics/Laboratory Corporation of America 3 4 11 1 0 0 19
Invitae 2 0 9 3 2 0 16
Counsyl 0 10 3 1 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 9 0 3 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 2 3 0 8
Mendelics 2 2 2 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 3 1 1 0 6
PreventionGenetics 0 0 0 1 2 0 3
CFTR2 3 0 0 0 0 0 3
Illumina Clinical Services Laboratory,Illumina 0 0 1 2 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
OMIM 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
GeneDx 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1

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