ClinVar Miner

Variants from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen:
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
475 127 0 62 45 0 38 143

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
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 23 5 0 0
likely pathogenic 26 0 12 0 0
uncertain significance 8 13 0 3 1
likely benign 0 0 32 0 3
benign 0 0 9 10 0

Submitter to submitter summary #

Total submitters: 22
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
Illumina Laboratory Services, Illumina 0 51 0 9 36 0 0 45
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 28 0 14 2 0 10 26
Labcorp Genetics (formerly Invitae), Labcorp 0 67 0 10 5 0 11 26
NIHR Bioresource Rare Diseases, University of Cambridge 0 11 0 8 0 0 8 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 7 0 0 3 10
OMIM 0 8 0 5 0 0 1 6
Fulgent Genetics, Fulgent Genetics 0 1 0 3 2 0 0 5
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 0 5 0 3 0 0 1 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 2 0 0 1 3
3billion 0 2 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 2 0 0 2
Revvity Omics, Revvity 0 2 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) rs149468422 0.00662
NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) rs5913 0.00354
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00326
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu) rs547921381 0.00302
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000174.5(GP9):c.-124C>T rs144100272 0.00149
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_000174.5(GP9):c.*38C>T rs774275281 0.00091
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00083
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00064
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000174.5(GP9):c.236C>T (p.Thr79Ile) rs200640594 0.00046
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000174.5(GP9):c.488C>A (p.Ala163Asp) rs181175542 0.00034
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00032
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00030
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00029
NM_000419.5(ITGA2B):c.671-13C>T rs200108644 0.00024
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00018
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00017
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00015
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000419.5(ITGA2B):c.408+16C>T rs377288289 0.00013
NM_000174.5(GP9):c.423G>A (p.Ala141=) rs553559631 0.00011
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.1439+8C>T rs371050454 0.00007
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00007
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=) rs148263909 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00005
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00005
NM_000174.5(GP9):c.18C>T (p.Ala6=) rs200376043 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354 0.00001
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640 0.00001
NM_000212.3(ITGB3):c.1605C>T (p.His535=) rs757985563 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) rs747991001 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 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_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829 0.00001
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) rs1261397461 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.188+7C>T rs774338537 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00001
NM_000419.5(ITGA2B):c.408G>C (p.Val136=) rs1400938437 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487 0.00001
NM_000173.7(GP1BA):c.104del (p.Lys35fs) rs1555549041
NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) rs1172767977
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp) rs2507592346
NM_000173.7(GP1BA):c.667T>G (p.Trp223Gly)
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg) rs1394634674
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter) rs2507593310
NM_000174.5(GP9):c.212T>G (p.Phe71Cys) rs121918037
NM_000174.5(GP9):c.259T>C (p.Trp87Arg) rs766253334
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) rs769561588
NM_000174.5(GP9):c.442dup (p.Val148fs)
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) rs1389191920
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.5(GP1BB):c.338A>G (p.Tyr113Cys) rs121909750
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter) rs1402804629
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) rs2145796556
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu) rs2145795850
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.188+8G>A rs13306471
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg) rs531356248
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.3017dup (p.Gly1007fs) rs1291802895
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.3091del (p.Leu1031fs) rs2510070728
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter) rs2510085242
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) rs2048642260
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met) rs2048639927
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg) rs2048679372
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser) rs2048635741
NM_000419.5(ITGA2B):c.624+2C>A rs2048635467
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.945+10A>G rs886053008
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778

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