ClinVar Miner

Variants from University of Washington Department of Laboratory Medicine, University of Washington with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from University of Washington Department of Laboratory Medicine, University of Washington: Collection method of the submission from University of Washington Department of Laboratory Medicine, University of Washington:
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
957 92 1 53 49 5 27 121

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
University of Washington Department of Laboratory Medicine, University of Washington pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 0 20 7 0 0 1 2
likely pathogenic 16 0 8 0 0 0 1
uncertain significance 3 9 1 10 4 0 0
likely benign 0 0 35 0 14 0 0
benign 0 0 3 3 0 0 0
risk factor 1 1 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 38
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
Invitae 0 9 0 8 20 1 2 31
Ambry Genetics 0 35 0 12 5 0 7 24
Integrated Genetics/Laboratory Corporation of America 0 10 0 7 4 1 3 15
Color Health, Inc 0 38 0 11 2 0 2 15
Mendelics 0 7 0 2 10 0 2 14
Counsyl 0 7 0 0 10 0 2 12
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 24 0 8 1 0 2 11
Illumina Clinical Services Laboratory,Illumina 0 5 0 5 4 0 2 11
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 2 3 1 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 0 1 2 1 5 9
GeneDx 0 18 0 1 5 0 1 7
PreventionGenetics, PreventionGenetics 0 2 0 0 2 1 4 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 4 1 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 5 0 0 2 0 3 5
GeneKor MSA 0 7 0 4 0 0 0 4
OMIM 0 5 0 0 0 3 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 4 0 0 0 1 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 0 0 1 1 2
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 3 0 0 2 0 0 2
Baylor Genetics 0 0 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 0 1 0 0 1
Sharing Clinical Reports Project (SCRP) 0 10 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 5 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Leiden Open Variation Database 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 1 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 5 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 1 0 1 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.6841+3A>T rs81002825
NM_000059.3(BRCA2):c.7007+5G>A rs81002816
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del) rs276174855
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) rs201613780
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000222.2(KIT):c.1232-6C>G rs1553890995
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1862G>A (p.Arg621Gln) rs759263820
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000455.4(STK11):c.464G>A (p.Gly155Glu) rs1555737830
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.747G>T rs28934571
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) rs1060499971
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) rs201141245
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004329.2(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005590.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.3(MRE11):c.21-6_26del rs587780138
NM_005732.4(RAD50):c.5C>T (p.Ser2Phe) rs1554096631
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.5608C>T (p.Arg1870Cys) rs138231414
NM_006231.3(POLE):c.62+1G>C rs1565986506
NM_006231.3(POLE):c.664C>T (p.Arg222Cys) rs767503360
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803
NM_006361.6(HOXB13):c.251G>A rs138213197
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007294.3(BRCA1):c.5333-221C>A rs8176304
NM_007294.3(BRCA1):c.5333-304G>A rs55633264
NM_007294.3(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.4(BRCA1):c.1016A>G (p.Lys339Arg) rs587781737
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.571+4A>G rs587780257
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704

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