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 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
572 156 0 17 164 2 13 192

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 0 6 2 0 0 1
likely pathogenic 11 0 2 0 0 0
uncertain significance 3 7 0 130 55 1

Submitter to submitter summary #

Total submitters: 33
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 0 112 0 3 148 0 1 152
Illumina Clinical Services Laboratory,Illumina 0 33 0 1 35 0 1 37
Natera, Inc. 0 6 0 1 11 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 7 0 2 7 0 0 9
OMIM 0 10 0 4 0 2 2 8
GeneDx 0 11 0 1 5 0 2 8
Mendelics 0 5 0 0 5 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 0 0 4
Baylor Genetics 0 10 0 2 0 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 1 2 0 0 3
GeneReviews 0 3 0 2 1 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 3 0 0 2 0 0 2
Ambry Genetics 0 6 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 4 0 0 2 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 7 0 0 2 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1 1
Counsyl 0 2 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 29 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1
Myriad Women's Health, Inc. 0 0 0 1 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 192
Download table as spreadsheet
HGVS dbSNP
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
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.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.6453C>T rs794728251
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000215.3(JAK3):c.114C>A (p.Pro38=) rs1448668382
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000270.4(PNP):c.645C>T (p.Asp215=)
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500
NM_000433.3(NCF2):c.1081A>T (p.Thr361Ser) rs147744729
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) rs754502950
NM_000544.3(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117
NM_000639.3(FASLG):c.451+7A>G rs201525996
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457
NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) rs10127939
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_001278074.1(COL5A1):c.4068+7G>A rs587780905
NM_001283009.1(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578
NM_001301365.1(LYST):c.2363+4T>C rs201398337
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.3683A>G (p.Asn1228Ser) rs145553827
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.7870C>T (p.Arg2624Trp) rs150306354
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys) rs34702903
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883
NM_002163.4(IRF8):c.988+10G>A rs371410129
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) rs770237630
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824
NM_002187.2(IL12B):c.283G>A (p.Glu95Lys) rs56287471
NM_002187.2(IL12B):c.749G>A (p.Arg250Gln) rs74644143
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002831.6(PTPN6):c.9-6G>A rs200900053
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_002838.5(PTPRC):c.3073-6A>G rs191867796
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931
NM_003156.3(STIM1):c.1541+287G>A rs562406813
NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) rs141215990
NM_003190.4(TAPBP):c.591G>A (p.Pro197=) rs200497341
NM_003242.6(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_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359
NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) rs140014632
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.3054A>C (p.Leu1018Phe) rs143548979
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005534.3(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212
NM_006231.3(POLE):c.94C>T (p.Leu32Phe) rs781513537
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634
NM_006904.6(PRKDC):c.5572-4G>A rs367584015
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399
NM_007267.7(TMC6):c.1214G>A (p.Arg405His) rs149023121
NM_007315.3(STAT1):c.1222-5T>C rs191364028
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_012448.3(STAT5B):c.551-5T>C rs200299299
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_014339.6(IL17RA):c.1493C>T (p.Thr498Ile) rs41529049
NM_014339.6(IL17RA):c.152C>T (p.Thr51Met) rs143008696
NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg) rs140221307
NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) rs116690692
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=) rs540345773
NM_015243.2(VPS13B):c.1652-9T>A rs375615155
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln) rs141223506
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) rs140090983
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) rs199626531
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075
NM_024589.2(ROGDI):c.532-4G>A rs3747610
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428
NM_052813.4(CARD9):c.1434+1G>C rs141992399
NM_052813.4(CARD9):c.809A>T (p.Glu270Val) rs114895119
NM_052813.5(CARD9):c.1312-13CT[2] rs770532797
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_138387.3(G6PC3):c.201C>T (p.Leu67=) rs375273894
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379
NM_144687.3(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) rs144405088
NM_152468.4(TMC8):c.1168G>A (p.Val390Ile) rs150546646
NM_152468.4(TMC8):c.1364G>A (p.Arg455Gln) rs151076155
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303
NM_182919.3(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_199242.2(UNC13D):c.227C>T (p.Thr76Met) rs78028658
NM_199242.2(UNC13D):c.972C>T (p.Asp324=) rs368990813
NM_203447.3(DOCK8):c.380G>A (p.Arg127His) rs150742426
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164

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