ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and OMIM

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
1262 108 0 4 5 104 28 140

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 uncertain significance benign affects association drug response protective risk factor other
pathogenic 0 1 1 0 0 0 1 14 22
likely pathogenic 4 0 0 0 0 0 0 0 4
uncertain significance 21 0 0 0 1 0 0 2 6
likely benign 2 2 0 0 1 0 0 0 1
benign 3 3 0 3 4 1 5 17 1
other 5 0 6 0 1 10 0 3 0

All variants with conflicting interpretations #

Total variants: 140
Download table as spreadsheet
HGVS dbSNP
CYP2C19*3 rs4986893
CYP2C19*4A rs28399504
CYP2C19*5 rs56337013
CYP2C9*3 rs1057910
CYP2D6*10 rs1065852
CYP2D6*4 rs3892097
CYP2D6*6 rs5030655
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000051.4(ATM):c.146C>G rs1800054
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) rs35742686
NM_000109.4(DMD):c.69+5590T>A rs1557211730
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000686.5(AGTR2):c.402del (p.Phe134fs) rs387906503
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) rs28941780
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001366537.2(TBXAS1):c.151-24958T>C rs140005285
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) rs2296651
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) rs756800816
NM_014946.4(SPAST):c.131C>T rs121908515
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_033360.4(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
UGT1A1*6 rs4148323

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