ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Genetic Services Laboratory,University of Chicago

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: 163
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00392
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00281
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00274
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00217
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00131
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00099
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00096
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00092
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00092
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00092
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=) rs77460377 0.00077
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00067
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00061
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00045
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00045
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00026
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00025
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00022
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00022
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00019
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00019
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00016
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00016
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00016
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00016
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00016
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00016
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00016
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00016
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00013
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00013
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00010
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00010
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00003
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00003
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00003
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00003
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=) rs770084292 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=) rs786201315
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) rs780721021
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000179.3(MSH6):c.2986T>C (p.Leu996=) rs876658605
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270

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