ClinVar Miner

Variants from University of Washington Center for Mendelian Genomics,University of Washington with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from University of Washington Center for Mendelian Genomics,University of Washington: Collection method of the submission from University of Washington Center for Mendelian Genomics,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 Variants with at least 2 submissions 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 kind of conflict
133 73 0 102 4 3 23 127

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 Center for Mendelian Genomics,University of Washington pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 0 12 4 0 0 0 0
likely pathogenic 91 0 14 6 3 1 2
uncertain significance 1 0 0 2 0 0 0
likely benign 0 0 1 0 0 0 0
benign 0 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 46
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
OMIM 0 64 0 58 0 3 4 65
GeneDx 0 19 0 19 0 0 3 22
Division Human Genetics,Medical University Innsbruck 0 0 0 16 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 5 0 12 0 0 4 16
Ambry Genetics 0 10 0 10 3 0 0 13
Invitae 0 7 0 5 1 0 6 12
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 0 0 9 0 0 0 9
Illumina Clinical Services Laboratory,Illumina 0 3 0 3 0 0 5 8
Fulgent Genetics,Fulgent Genetics 0 4 0 6 0 0 1 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 0 5 0 0 1 6
Genetic Services Laboratory, University of Chicago 0 1 0 4 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 4 0 0 0 4
Baylor Genetics 0 4 0 2 0 0 1 3
Counsyl 0 1 0 1 0 0 2 3
Integrated Genetics/Laboratory Corporation of America 0 6 0 3 0 0 0 3
GeneReviews 0 1 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 6 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 2 0 0 0 2
PreventionGenetics,PreventionGenetics 0 0 0 0 0 0 2 2
Center for Medical Genetics Ghent,University of Ghent 0 1 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 2 2
Dan Cohn Lab,University Of California Los Angeles 0 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 0 0 2 0 0 0 2
Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 2 0 0 1 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 330 2 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 127
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.2093C>T (p.Pro698Leu) rs764827921
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_001006657.2(WDR35):c.1501del (p.Gln501fs) rs886044119
NM_001006657.2(WDR35):c.1579C>T (p.Gln527Ter) rs1050086118
NM_001006657.2(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001172646.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001291412.2(SON):c.244+5217del rs1555898531
NM_001291412.2(SON):c.245-2376_245-2375del rs886039774
NM_001291412.2(SON):c.245-3285del rs886039776
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.493C>T (p.Arg165Trp) rs151173406
NM_001330504.1(ALG1):c.746C>T (p.Ala249Val) rs398124348
NM_001330504.1(ALG1):c.854+1G>A rs374928784
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001330504.1(ALG1):c.917_918insTG (p.Ala307fs) rs746019074
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) rs869312826
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.235G>A (p.Ala79Thr) rs752839330
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del) rs1555527166
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) rs749960549
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_014055.4(IFT81):c.1300_1302CTT[1] (p.Leu435del) rs1555266475
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_014080.4(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_014080.4(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571
NM_015693.4(INTU):c.396del (p.Asn132fs) rs1553970289
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716
NM_016011.4(MECR):c.830+2dup rs756421370
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) rs759218713
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660
NM_019109.4(ALG1):c.1072G>C (p.Gly358Arg) rs886042742
NM_019109.4(ALG1):c.1188-2A>G rs794727073
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.4(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836
NM_024996.5(GFM1):c.689+908G>A rs751069628
NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) rs139430866
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052873.3(IFT43):c.2T>A (p.Met1Lys) rs769724508
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) rs1555369050
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.3(SON):c.6087del (p.Ser2029fs) rs1569059792
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123

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