ClinVar Miner

Variants from International Society for Gastrointestinal Hereditary Tumours (InSiGHT) with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT): Collection method of the submission from International Society for Gastrointestinal Hereditary Tumours (InSiGHT):
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
1405 197 41 55 18 0 4 112

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.

All submitters
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 19 1 0 0
likely pathogenic 18 0 1 0 0
uncertain significance 1 1 0 3 1
likely benign 0 0 8 0 9
benign 0 0 7 9 41

Submitter to submitter summary #

Total submitters: 13
Download table as spreadsheet
Submitter 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
Integrated Genetics/Laboratory Corporation of America 0 85 36 22 0 0 0 58
Mendelics 0 19 2 4 9 0 1 16
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 2 4 0 0 11
University of Washington Department of Laboratory Medicine, University of Washington 0 24 0 8 1 0 2 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 30 1 6 0 0 1 8
Illumina Clinical Services Laboratory,Illumina 0 1 0 5 1 0 0 6
Counsyl 0 1 0 1 4 0 0 5
Invitae 0 38 1 4 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 31 0 3 0 0 0 3
CSER _CC_NCGL, University of Washington 0 4 1 1 1 0 0 3
Pathway Genomics 0 2 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 112
Download table as spreadsheet
HGVS dbSNP
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3802-40C>G rs3136367
NM_000179.2(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.3(MSH6):c.2983G>T rs63750258
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000249.3(MLH1):c.-269C>G rs35032294
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.381-41A>G rs4647245
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.453+25A>G rs4647246
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.4(MLH1):c.1668-19A>G rs9876116
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146
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_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1077-80G>A rs2347794
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.991A>G (p.Asn331Asp) rs267607938
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1511-9A>T rs12998837
NM_000251.3(MSH2):c.1661+12G>A rs3732183
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.2006-6T>C rs2303428
NM_000251.3(MSH2):c.211+9C>G rs2303426
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
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.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_001167617.2(MLH1):c.*32_*34CTT[1] rs193922366
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001354621.1(MLH1):c.-139-2735del rs63750034
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531

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