ClinVar Miner

Variants with conflicting interpretations studied for CFTR-related condition

Minimum review status of the submission for CFTR-related condition: Collection method of the submission for CFTR-related condition:
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 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
63 87 0 29 45 13 23 86

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
CFTR-related condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 8 1 0 0 9 0
likely pathogenic 10 0 7 0 0 2 0
uncertain significance 8 9 0 7 2 1 0
likely benign 1 1 35 0 8 0 1
benign 0 0 1 3 0 0 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
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
not provided 0 81 0 21 33 0 20 67
CFTR-related disorders 0 75 0 10 14 0 10 29
not specified 0 79 0 10 14 0 4 28
ivacaftor response - Efficacy 0 0 0 0 0 11 0 11
Obstructive azoospermia 0 2 0 1 0 0 1 2
Duodenal stenosis 0 0 0 1 0 0 0 1
Hypertrypsinemia, neonatal, susceptibility to 0 0 0 0 0 1 0 1
Pancreatitis, idiopathic, susceptibility to 0 0 0 0 0 1 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.1585-9395C>G rs77164005 0.00223
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.1209+28C>T rs370653287 0.00018
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.3(CFTR):c.-256G>A rs1035377381 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3963+6G>T rs1793110791 0.00001
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-34TG[9] rs3832534
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.2620-22A>G
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3873+28dup
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.744-34_744-31del rs768226435
NM_000492.4(CFTR):c.870-7_870-5del rs759762840

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