ClinVar Miner

Variants from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
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
347 120 6 28 124 1 24 169

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 5 14 4 0 0 1
likely pathogenic 14 0 2 0 0 0
uncertain significance 11 9 1 102 60 0

Submitter to submitter summary #

Total submitters: 52
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
Invitae 0 104 0 6 91 0 1 98
GeneDx 0 80 0 7 54 0 4 65
Ambry Genetics 0 41 0 2 28 0 1 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 42 0 1 17 0 3 21
Illumina Clinical Services Laboratory,Illumina 0 32 0 1 17 0 2 20
OMIM 0 15 0 7 0 1 7 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 19 0 3 9 0 2 14
PreventionGenetics 0 0 0 0 12 0 0 12
GeneReviews 0 8 5 3 2 0 2 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 8 0 1 10 0 1 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 16 0 0 8 0 3 11
Integrated Genetics/Laboratory Corporation of America 0 20 1 0 7 0 2 10
Athena Diagnostics Inc 0 10 0 1 7 0 0 8
Genetic Services Laboratory, University of Chicago 0 17 0 0 8 0 0 8
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 0 0 1 7 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 22 0 2 4 0 0 6
Counsyl 0 4 0 4 0 0 2 6
Color 0 4 0 0 6 0 0 6
Center for Medical Genetics Ghent,University of Ghent 0 7 0 2 1 0 2 5
Center for Human Genetics, Inc 0 10 0 1 3 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 2 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 0 1 0 1 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 0 4 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 1 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Mendelics 0 2 0 0 1 0 0 1
Fulgent Genetics 0 24 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Blueprint Genetics, 0 3 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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 Medical Center 0 3 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics,University of Parma 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 169
Download table as spreadsheet
HGVS dbSNP
NM_000022.2(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000026.3(ADSL):c.357+6C>T rs181628906
NM_000043.5(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000057.3(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) rs185342631
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000101.3(CYBA):c.527_529dupCGG (p.Ala176_Gly177insAla) rs760275837
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000211.4(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000235.3(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000238.3(KCNH2):c.1341C>T (p.Tyr447=) rs367570298
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000292.2(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_000548.4(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.4(TSC2):c.4030_4032delGAG (p.Glu1344del) rs878854100
NM_000548.4(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.4(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845
NM_000639.2(FASLG):c.451+7A>G rs201525996
NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000816.3(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_001008537.2(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001040113.1(MYH11):c.3918C>T (p.Ala1306=) rs190546350
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001077494.3(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001079.3(ZAP70):c.1082+8C>T rs55933862
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) rs10127939
NM_001130438.2(SPTAN1):c.1968G>A (p.Val656=) rs968327265
NM_001130438.2(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001165963.2(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.2(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193536.1(DOCK8):c.3815A>G (p.Tyr1272Cys) rs116920018
NM_001199917.1(PGM3):c.1049T>C (p.Ile350Thr) rs745508510
NM_001199917.1(PGM3):c.605G>T (p.Arg202Leu) rs73749732
NM_001202435.2(SCN1A):c.602+1G>A rs794726827
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001271.3(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001376.4(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.4(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.4(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.6511+5G>A rs200608284
NM_002187.2(IL12B):c.749G>A (p.Arg250Gln) rs74644143
NM_002241.4(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002661.4(PLCG2):c.923C>T (p.Ala308Val) rs199636472
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002838.4(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.4(PTPRC):c.3073-6A>G rs191867796
NM_002838.4(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002977.3(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_003023.4(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122
NM_003023.4(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457
NM_003036.3(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.3(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003721.3(RFXANK):c.95C>T (p.Ala32Val) rs114064359
NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) rs140014632
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.3(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005765.2(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) rs146711942
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007255.2(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007315.3(STAT1):c.1222-5T>C rs191364028
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_012330.3(KAT6B):c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) rs569172957
NM_012330.3(KAT6B):c.4077_4079delGGA (p.Glu1368del)
NM_012448.3(STAT5B):c.551-5T>C rs200299299
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014141.5(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.5(CNTNAP2):c.755-5C>T rs369675346
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014795.3(ZEB2):c.2226A>T (p.Pro742=) rs540345773
NM_014795.3(ZEB2):c.332-6C>T rs730881186
NM_016038.2(SBDS):c.258+1G>C rs113993992
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_017780.3(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_018100.3(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_020822.2(KCNT1):c.2595-9C>T rs369966222
NM_020937.3(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020964.2(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.2(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.2(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_021007.2(SCN2A):c.1402_1404delTCT (p.Ser468del) rs780584405
NM_021007.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_024589.2(ROGDI):c.532-4G>A rs3747610
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_052813.4(CARD9):c.1312-9_1312-8delCT rs770532797
NM_052813.4(CARD9):c.809A>T (p.Glu270Val) rs114895119
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_139276.2(STAT3):c.2228G>T (p.Gly743Val) rs151033214
NM_144687.3(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_174963.4(ST3GAL3):c.1286G>A (p.Arg429Gln) rs553120567
NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) rs377639087
NM_199242.2(UNC13D):c.227C>T (p.Thr76Met) rs78028658

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