ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Department of Pathology and Laboratory Medicine,Sinai Health System

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
717 211 0 41 44 1 17 103

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 0 13 0 0
likely pathogenic 0 0 2 0 0
uncertain significance 1 1 0 5 1
likely benign 0 0 8 0 12
benign 0 0 30 29 0
risk factor 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
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.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.425+33A>G rs200065709
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000179.2(MSH6):c.260+22C>G rs55927047
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000243.2(MEFV):c.1760-30T>A rs1231123
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_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.4(MLH1):c.1668-19A>G rs9876116
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000455.4(STK11):c.369G>A (p.Gln123=) rs140112347
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.920+7G>C rs2075607
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr) rs6501
NM_003000.3(SDHB):c.423+20T>A rs190139590
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004360.5(CDH1):c.-71C>G rs34033771
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.48+6C>T rs3743674
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.793-11G>A rs5997387
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.4(BRCA1):c.5406+33A>T rs80358092
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.548-17G>T rs80358014
NM_012222.2(MUTYH):c.496-4A>G rs201678305
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629
NM_015074.3(KIF1B):c.1977+6360G>T rs41274458
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015074.3(KIF1B):c.608+8dup rs139613776
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
Single allele rs28359170

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