ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
64 999 0 124 86 8 23 238

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 6 0 0
likely pathogenic 9 0 7 0 0
uncertain significance 4 7 0 24 2
likely benign 2 1 30 0 12
benign 2 1 31 95 0
other 7 1 2 0 0

All variants with conflicting interpretations #

Total variants: 238
Download table as spreadsheet
HGVS dbSNP
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_001008215.3(COA5):c.*3C>G rs372867268
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127649.3(PEX26):c.*10C>T rs117472525
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001308211.1(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002979.5(SCP2):c.675-6T>C rs115815213
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_004006.2(DMD):c.7016A>G (p.His2339Arg) rs398124041
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.5(CDH1):c.532-18C>T rs200673941
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_012222.2(MUTYH):c.1440C>T (p.Thr480=) rs150269172
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.254G>A (p.Arg85His) rs35630194
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_139011.3(HFE):c.77-2168C>G rs1799945
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153818.1(PEX10):c.6C>G (p.Ala2=) rs112471479
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
Single allele
UGT1A1*6 rs4148323

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