ClinVar Miner

Variants from ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology with conflicting interpretations

Location: Belgium  Primary collection method: clinical testing
Minimum review status of the submission from ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology: Collection method of the submission from ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology:
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
577 139 0 83 23 5 50 148

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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology pathogenic likely pathogenic uncertain significance likely benign benign established risk allele pathogenic, low penetrance risk factor other
pathogenic 0 25 6 1 1 1 2 0 0
likely pathogenic 56 0 18 3 0 0 0 1 1
uncertain significance 15 16 0 13 16 0 0 1 0
likely benign 2 0 1 0 2 0 0 0 0
benign 0 0 1 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 64
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
OMIM 0 43 0 24 0 1 10 35
Invitae 0 22 0 9 14 1 6 30
Illumina Laboratory Services, Illumina 0 21 0 6 11 0 6 23
NIHR Bioresource Rare Diseases, University of Cambridge 0 39 0 14 0 0 9 22
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 17 0 7 0 0 6 13
Fulgent Genetics, Fulgent Genetics 0 21 0 7 1 0 2 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 14 0 6 1 0 2 9
Genetics and Molecular Pathology, SA Pathology 0 18 0 6 0 0 3 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 8 0 5 0 0 3 8
Mendelics 0 8 0 3 1 0 3 7
Baylor Genetics 0 13 0 5 0 0 1 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 0 4 0 0 2 6
Revvity Omics, Revvity 0 14 0 2 0 0 3 5
CSER _CC_NCGL, University of Washington 0 3 0 0 1 0 4 5
Laboratory of Hematology, Radboud University Medical Center 0 9 0 4 0 0 1 5
Counsyl 0 7 0 2 0 0 2 4
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 7 0 1 1 0 2 4
PreventionGenetics, part of Exact Sciences 0 0 0 0 2 0 1 3
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 1 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Natera, Inc. 0 0 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 5 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 1 1 2
Genome-Nilou Lab 0 0 0 1 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 5 0 2 0 0 0 2
GeneDx 0 1 0 0 0 0 1 1
Versiti Diagnostic Laboratories, Versiti, Inc 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 0 1 1
Russ Altman Lab, Stanford University 0 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 0 1
Nöthen Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 1 0 0 0 1
Variantyx, Inc. 0 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 0 0 0 1 1
Hematology laboratory, Robert Debré Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 3 0 0 0 0 1 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 2 0 0 1 0 0 1
New York Genome Center 0 1 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 0 0 0 0 1 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 862 1 0 1 0 0 1 1
3billion 0 4 0 1 0 0 0 1
DASA 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 1 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 1 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 1 0 0 1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 148
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_000301.5(PLG):c.1878-6T>C rs192519670 0.00175
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) rs147175166 0.00073
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) rs387907347 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro) rs398122374
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) rs2048616842
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
NM_000505.4(F12):c.971_1018+24del rs1554097246
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn) rs869320715
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp) rs869320714
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) rs1594760036
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln) rs2140067871
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) rs2133384781
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) rs1849295075
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) rs2133379889
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.744C>T (p.Asn248=) rs1555889947
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys) rs1064797084
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser) rs121918552
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) rs143740796
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
Single allele

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