ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely pathogenic" from any submitter

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: 135
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HGVS dbSNP
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000138.4(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.4(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.4(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.4(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.3297C>A rs747754623
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) rs558707786
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001234.5(CAV3):c.442C>T (p.Arg148Trp) rs730880422
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.851+5G>A rs193922620
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004006.2(DMD):c.3922-3C>T rs786205603
NM_004333.6(BRAF):c.826G>C (p.Val276Leu) rs1057518105
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs) rs1555574355
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_181798.1(KCNQ1):c.199G>C (p.Ala67Pro) rs199472699
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_198056.2(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864
NM_198056.2(SCN5A):c.3404G>T (p.Ser1135Ile) rs557957405
NM_198056.2(SCN5A):c.5320A>T (p.Asn1774Tyr) rs199473633
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170

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