ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Department of Pathology and Laboratory Medicine,Sinai Health System

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:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
364 271 0 43 89 11 19 159

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 13 0 0
likely pathogenic 3 0 5 0 0
uncertain significance 1 2 0 26 0
likely benign 1 0 16 0 15
benign 1 0 48 21 0
other 4 1 5 1 1

All variants with conflicting interpretations #

Total variants: 159
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3646+35_3646+38del rs1805181
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.4(MLH1):c.1668-19A>G rs9876116
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000455.4(STK11):c.920+7G>C rs2075607
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.10687-7C>T rs2960354
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147
NM_000540.3(RYR1):c.7614+10C>G rs2960323
NM_000540.3(RYR1):c.7835+5A>G rs1469695
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146
NM_000540.3(RYR1):c.8693-10G>C rs2915958
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962
NM_000552.4(VWF):c.2880G>A (p.Arg960=) rs1800380
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.48+6C>T rs3743674
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_015074.3(KIF1B):c.1977+6625G>A rs145248590
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_139011.3(HFE):c.77-2168C>G rs1799945
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.