ClinVar Miner

Variants with conflicting interpretations "benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "benign" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 63
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HGVS dbSNP
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe) rs140118273
NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln) rs3219497
NM_012222.2(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558

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