ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Department of Pathology and Laboratory Medicine,Sinai Health System

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
1507 235 0 52 81 0 3 136

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 0 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 13 0
likely benign 0 0 52 0 9
benign 0 0 16 41 0

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.5304G>A (p.Lys1768=) rs863224285
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.2085G>A (p.Leu695=) rs786202229
NM_000051.3(ATM):c.2466+7A>G rs55812024
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9649-6dup rs276174929
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499
NM_000059.4(BRCA2):c.7436-4A>G rs81002904
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000179.2(MSH6):c.3456A>G (p.Val1152=) rs750998416
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000249.3(MLH1):c.1128T>C (p.Asp376=) rs267607824
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.30G>T (p.Arg10=) rs876660759
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000251.2(MSH2):c.1662-10C>T rs752606387
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000455.4(STK11):c.1257C>T (p.Ser419=) rs375328708
NM_000455.4(STK11):c.735-9G>A rs201899557
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.920+6C>T rs730881964
NM_000455.4(STK11):c.921-10G>A rs183406870
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1238A>G (p.Asn413Ser) rs529340553
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_003000.3(SDHB):c.423+20T>A rs190139590
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.5(CDH1):c.2637C>T (p.Gly879=) rs141001592
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn) rs139368531
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007294.3(BRCA1):c.671-8A>G rs80358144
NM_007294.3(BRCA1):c.81-17C>G rs757442952
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=) rs556684572
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.548-17G>T rs80358014
NM_012222.2(MUTYH):c.129C>T (p.Asn43=) rs141679570
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.48+7G>C rs190626072
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589

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