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

Minimum review status of the submission for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation:		Collection method of the submission for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
106	54	0	6	0	0	0	6

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation		pathogenic	likely pathogenic	likely benign
	pathogenic	0	4	0
	likely pathogenic	1	0	0
	benign	0	0	1

Condition to condition summary #

Total conditions: 2

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation	0	54	0	5	0	0	0	5
Inborn genetic diseases	0	3	0	1	0	0	0	1

All variants with conflicting interpretations #

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-13G>T	rs10229820	0.09791
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.3717+5G>A	rs193922520

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