ClinVar Miner

Variants from Vantari Genetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Vantari Genetics: Collection method of the submission from Vantari Genetics:
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 Variants with at least 2 submissions 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 kind of conflict
1 13 22 79 53 2 6 102

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
Vantari Genetics pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other
pathogenic 0 4 2 0 0 1 1 1
uncertain significance 0 1 1 13 9 0 0 0
likely benign 1 1 18 5 32 0 0 0
benign 1 0 21 43 16 0 1 0

Submitter to submitter summary #

Total submitters: 60
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 58 0 30 12 0 0 42
Ambry Genetics 0 42 0 27 12 0 0 39
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 18 7 8 0 0 33
Illumina Clinical Services Laboratory,Illumina 0 21 0 27 5 0 0 32
PreventionGenetics 0 48 0 24 6 0 0 30
GeneDx 0 54 0 20 7 0 1 28
Counsyl 0 30 0 18 8 0 0 26
Color 0 45 0 16 8 0 0 24
Integrated Genetics/Laboratory Corporation of America 0 30 0 15 7 0 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 31 0 14 5 1 0 20
True Health Diagnostics 0 25 0 17 3 0 0 20
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 10 0 16 1 0 0 17
Department of Pathology and Laboratory Medicine,Sinai Health System 0 18 0 13 4 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 28 0 12 3 0 0 15
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 24 0 12 2 0 0 14
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 8 0 11 2 0 0 13
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 10 0 11 1 0 0 12
Pathway Genomics 0 15 0 10 2 0 0 12
Michigan Medical Genetics Laboratories,University of Michigan 0 7 0 10 1 0 0 11
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 4 5 5 1 0 0 11
Breast Cancer Information Core (BIC) (BRCA2) 0 5 0 4 7 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 16 0 10 1 0 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 5 5 0 0 10
Mendelics 0 6 0 4 6 0 0 10
Genetic Services Laboratory, University of Chicago 0 20 0 8 1 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 14 0 6 3 0 0 9
Breast Cancer Information Core (BIC) (BRCA1) 0 3 0 1 8 0 0 9
OMIM 0 4 0 0 3 2 3 8
Sharing Clinical Reports Project (SCRP) 0 11 0 6 2 0 0 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 10 0 7 1 0 0 8
CSER_CC_NCGL; University of Washington Medical Center 0 5 0 4 3 0 0 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 4 2 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 15 0 5 1 0 0 6
Fulgent Genetics 0 9 0 4 1 0 0 5
GeneKor MSA 0 4 0 4 1 0 0 5
Baylor Miraca Genetics Laboratories, 0 7 0 3 1 0 0 4
Center for Human Genetics, Inc 0 2 0 1 3 0 0 4
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 0 2 2 0 0 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 1 2 0 1 4
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 8 0 3 1 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 10 0 4 0 0 0 4
Athena Diagnostics Inc 0 6 0 1 2 0 0 3
PALB2 database 0 4 0 2 1 0 0 3
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 2 0 1 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 1 2 0 0 3
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 0 3 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 2 0 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 1 0 1 1 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 1 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 2 0 0 0 2
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 1 1 0 0 2
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Department of Medical Genetics,University Hospital of North Norway 0 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 0 1 1
ARUP Institute,ARUP Laboratories 0 0 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 6 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 102
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.67+82C>G rs189026060
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.454-51T>C rs4647255
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1760-62G>A rs17218439
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000264.3(PTCH1):c.2560+8G>A rs201541845
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000548.4(TSC2):c.3884-17C>G rs45517317
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.848+7G>A rs45442896
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_001127500.2(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001184.3(ATR):c.891G>C (p.Lys297Asn) rs2229033
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_001256849.1(POLD1):c.56G>A (p.Arg19His) rs3218773
NM_002354.2(EPCAM):c.492-5T>C rs78608315
NM_002354.2(EPCAM):c.77-11T>A rs114241106
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004655.3(AXIN2):c.1250C>T (p.Ala417Val) rs201460658
NM_004655.3(AXIN2):c.1615G>A (p.Val539Met) rs9913621
NM_004655.3(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005732.3(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005732.3(RAD50):c.671G>A (p.Arg224His) rs28903088
NM_006206.5(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020975.4(RET):c.1264-5C>T rs9282835
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_032444.3(SLX4):c.2854_2855delGCinsAT (p.Ala952Met) rs863224277
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_138715.2(MSR1):c.877C>T (p.Arg293Ter) rs41341748

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