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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
72	6	81	4	3	166

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	53	6	71	3	3	136
CFTR, LOC111674472	7	0	7	0	0	14
CFTR, LOC111674475	8	0	2	0	0	10
CFTR, LOC111674477	2	0	0	0	0	2
CFTR, LOC113633877	1	0	1	0	0	2
CFTR, LOC111674463	0	0	0	1	0	1
CFTR, LOC113664106	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	71	6	81	4	3	165
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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