ClinVar Miner

Variants from CFTR-France with conflicting interpretations

Location: France  Primary collection method: curation
Minimum review status of the submission from CFTR-France: Collection method of the submission from CFTR-France:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
138 249 0 112 8 0 26 129

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 submitters
CFTR-France pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 101 24 4
benign 1 0 8 11

Submitter to submitter summary #

Total submitters: 35
Download table as spreadsheet
Submitter 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
Counsyl 0 47 0 34 1 0 5 40
Natera, Inc. 0 16 0 13 0 0 3 16
Institute of Human Genetics, University of Leipzig Medical Center 0 67 0 12 3 0 0 15
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 30 0 8 2 0 3 13
PreventionGenetics, part of Exact Sciences 0 1 0 4 1 0 7 12
Fulgent Genetics, Fulgent Genetics 0 20 0 11 0 0 0 11
Illumina Laboratory Services, Illumina 0 7 0 2 0 0 8 10
Ambry Genetics 0 161 0 7 1 0 1 9
Genome-Nilou Lab 0 10 0 4 1 0 4 9
Labcorp Genetics (formerly Invitae), Labcorp 0 217 0 6 0 0 3 9
Baylor Genetics 0 27 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 154 0 8 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 0 77 0 7 0 0 0 7
Myriad Genetics, Inc. 0 54 0 5 0 0 0 5
Mendelics 0 84 0 2 0 0 2 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 3 0 0 1 4
Arcensus 0 4 0 3 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 5 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 11 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 5 0 2 0 0 0 2
3billion 0 15 0 0 1 0 0 1
CFTR2 0 190 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 5 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 1 0 0 0 1
Otogenetics 0 5 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00634
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00093
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00018
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 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.2173G>A (p.Glu725Lys) rs199791061 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00007
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00005
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3964-3C>G rs397508652
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808

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