ClinVar Miner

Variants with conflicting interpretations "benign" from Department of Pathology and Laboratory Medicine, Sinai Health System and "likely benign" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 184
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_005245.4(FAT1):c.13727C>T (p.Thr4576Met) rs142057401 0.01074
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_014679.5(CEP57):c.333G>C (p.Gln111His) rs117321017 0.00613
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu) rs34310648 0.00537
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_004423.4(DVL3):c.291G>A (p.Ser97=) rs150288196 0.00499
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_005612.5(REST):c.2206C>T (p.Pro736Ser) rs61754065 0.00455
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu) rs200633985 0.00375
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005245.4(FAT1):c.8535G>A (p.Met2845Ile) rs138948513 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_005245.4(FAT1):c.4841C>T (p.Pro1614Leu) rs183343406 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996 0.00198
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser) rs181273304 0.00175
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) rs138913417 0.00132
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_000029.4(AGT):c.151T>C (p.Cys51Arg) rs61731497 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys) rs146913158 0.00105
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) rs201997376 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile) rs545152883 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg) rs150395515 0.00006
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=) rs577199866 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000249.4(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) rs11267392
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029

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