ClinVar Miner

Variants with conflicting interpretations studied for ivacaftor response - Efficacy

Coded as:
Minimum review status of the submission for ivacaftor response - Efficacy: Y axis collection method of the submission for ivacaftor response - Efficacy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
2 1 0 0 0 30 0 30

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
ivacaftor response - Efficacy pathogenic likely pathogenic uncertain significance likely benign benign risk factor
drug response 29 14 9 2 2 1

Condition to condition summary #

Total conditions: 11
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Cystic fibrosis 0 2 0 0 0 29 0 29
not provided 0 1 0 0 0 22 0 22
not specified 0 0 0 0 0 9 0 9
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 0 0 0 0 0 8 0 8
Hereditary pancreatitis 0 0 0 0 0 4 0 4
Congenital bilateral absence of the vas deferens 0 0 0 0 0 2 0 2
Cystic fibrosis; Congenital bilateral absence of the vas deferens 0 0 0 0 0 2 0 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 1 0 1
Duodenal stenosis 0 0 0 0 0 1 0 1
Inborn genetic diseases 0 0 0 0 0 1 0 1
Recurrent pancreatitis 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752

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