ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
94 210 0 122 21 0 10 153

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 2 1 1 0
likely pathogenic 2 0 1 0 0
uncertain significance 2 2 0 10 0
likely benign 2 0 6 0 3
benign 1 0 5 115 0

All variants with conflicting interpretations #

Total variants: 153
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
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.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.4(ATM):c.146C>G rs1800054
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000095.3(COMP):c.2227+8G>A rs116499541
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000243.2(MEFV):c.1587+18C>T rs11466030
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000321.2(RB1):c.1216-29A>G rs3092886
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003000.3(SDHB):c.423+20T>A rs190139590
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003122.4(SPINK1):c.88-23A>T rs199929811
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004082.4(DCTN1):c.3699+16G>A rs747490958
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014920.4(CILK1):c.831+5del rs200780900
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020956.2(PRX):c.*936C>T rs118071705
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.92-493A>T rs77290854
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NR_001566.1(TERC):n.228G>A rs141686314

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