ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely benign" from Quest Diagnostics Nichols Institute San Juan Capistrano

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:
ClinVar version:
Total variants with conflicting interpretations: 162
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771 0.00015
NM_006361.6(HOXB13):c.6G>A (p.Glu2=) rs371544984 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00004
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254 0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=) rs773147894 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)

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