ClinVar Miner

Variants studied for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation

Coded as:
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 total
75 8 85 4 3 175

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CFTR 56 7 75 3 3 144
CFTR, LOC111674472 7 0 7 0 0 14
CFTR, LOC111674475 8 0 2 0 0 10
CFTR, LOC111674463 0 1 0 1 0 2
CFTR, LOC111674477 2 0 0 0 0 2
CFTR, LOC113633877 1 0 1 0 0 2
CFTR, LOC113664106 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 71 6 81 4 3 165
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 4 0 0 9
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1

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