ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and PreventionGenetics

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
0 235 0 232 24 0 1 257

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.

likely benign benign
pathogenic 0 1
uncertain significance 19 5
likely benign 0 195
benign 37 0

All variants with conflicting interpretations #

Total variants: 257
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000321.2(RB1):c.1216-29A>G rs3092886
NM_000328.3(RPGR):c.905G>C (p.Cys302Ser) rs62640590
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001173990.3(TMEM216):c.35-17C>T rs147953784
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271620.2(ZNF423):c.2960C>T (p.Ala987Val) rs111229124
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.2(DNAH11):c.7812-18C>G rs147865931
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834
NM_001365276.2(TNXB):c.7168+19C>A rs11752495
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051
NM_001369.2(DNAH5):c.13338+16C>T rs115271897
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) rs141146885
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001854.4(COL11A1):c.2556+92T>A rs550991929
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002206.3(ITGA7):c.1281+13G>A rs143895796
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) rs141215990
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004826.4(ECEL1):c.967-7C>G rs76735188
NM_004895.4(NLRP3):c.1026C>T (p.Pro342=) rs41311573
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005219.5(DIAPH1):c.1821_1823TCC[12] (p.Pro620dup) rs3075570
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005270.4(GLI2):c.803C>T (p.Ala268Val) rs146992756
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_012330.4(KAT6B):c.4079_4087AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012472.6(LRRC6):c.914+13A>G rs113135637
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015697.8(COQ2):c.574A>G (p.Thr192Ala) rs144913206
NM_015697.8(COQ2):c.587A>G (p.Asn196Ser) rs150295921
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017802.4(DNAAF5):c.1024+11G>T rs201554395
NM_017950.4(CCDC40):c.856-18G>A rs189118723
NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407
NM_018965.3(TREM2):c.469C>T (p.His157Tyr) rs2234255
NM_020365.5(EIF2B3):c.975+9A>G rs79174967
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_022068.3(PIEZO2):c.6191G>C (p.Arg2064Thr) rs79992793
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_025074.6(FRAS1):c.109-15delT rs548267943
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_139025.4(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153704.5(TMEM67):c.507-19T>C rs138589757
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277

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