ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
121 498 0 96 29 0 26 151

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 7 10 0 0
likely pathogenic 3 0 7 0 0
uncertain significance 3 4 0 1 0
likely benign 0 0 18 0 5
benign 3 0 10 81 0

All variants with conflicting interpretations #

Total variants: 151
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
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.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
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.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
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.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
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.68-7T>A rs81002830
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.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_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000552.4(VWF):c.1728G>T (p.Met576Ile) rs150146744
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819
NM_003122.4(SPINK1):c.200G>A (p.Arg67His) rs35523678
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_004360.5(CDH1):c.-71C>G rs34033771
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.5(CDH1):c.532-18C>T rs200673941
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004437.4(EPB41):c.1A>G (p.Met1Val) rs1557948192
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004614.5(TK2):c.231+10C>T rs187517309
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_005359.6(SMAD4):c.*11C>T rs11663402
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
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.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_020191.3(MRPS22):c.201A>G (p.Lys67=) rs11556243
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
Single allele rs28359170
UGT1A1*6 rs4148323

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