ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Quest Diagnostics Nichols Institute San Juan Capistrano and "benign" from any submitter

Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 152
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys) rs140240214 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_002878.4(RAD51D):c.*7C>T rs370985675 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000465.4(BARD1):c.-4G>A rs761863671 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg) rs745825088 0.00002
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) rs769849072 0.00002
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) rs760559435 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760 0.00001
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=) rs730881820 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016 0.00001
NM_000455.5(STK11):c.464+8C>T rs863224669 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His) rs587781761 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_000038.6(APC):c.*2AG[2] rs758692443
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly) rs398122550
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile) rs80358869
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro) rs80358982
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000552.5(VWF):c.1110-6dup rs534403271
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.4698T>G (p.Ser1566=) rs1246456207
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=) rs1555574705
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
Single allele

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