ClinVar Miner

Variants from Department of Pathology and Molecular Medicine,Queen's University with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Department of Pathology and Molecular Medicine,Queen's University: Collection method of the submission from Department of Pathology and Molecular Medicine,Queen's University:
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
7 58 4 21 33 1 5 45

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
Department of Pathology and Molecular Medicine,Queen's University pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 5 3 0 0 1
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 0 0 13 9 0
likely benign 0 0 5 0 2 0
benign 1 0 13 13 3 0

Submitter to submitter summary #

Total submitters: 46
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
Color 0 59 0 8 15 0 0 23
Counsyl 0 39 0 13 2 0 0 15
Invitae 0 70 0 5 9 0 0 14
GeneDx 0 57 0 3 9 0 0 12
Sharing Clinical Reports Project (SCRP) 0 60 0 2 10 0 0 12
Ambry Genetics 0 67 0 2 8 0 0 10
Breast Cancer Information Core (BIC) (BRCA2) 0 44 0 0 9 0 1 10
Integrated Genetics/Laboratory Corporation of America 0 56 0 3 5 0 0 8
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 24 0 4 1 0 2 7
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 3 1 3 0 0 7
Breast Cancer Information Core (BIC) (BRCA1) 0 22 0 0 6 0 0 6
Illumina Clinical Services Laboratory,Illumina 0 5 0 6 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 47 0 4 2 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 15 0 2 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 24 0 3 1 0 0 4
PreventionGenetics 0 16 0 3 1 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 8 0 3 1 0 0 4
True Health Diagnostics 0 4 0 3 1 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 19 0 1 2 0 0 3
Michigan Medical Genetics Laboratories,University of Michigan 0 22 0 2 1 0 0 3
Mendelics 0 10 0 1 2 0 0 3
Fulgent Genetics 0 10 0 3 0 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 67 0 2 1 0 0 3
Pathway Genomics 0 6 0 3 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 4 0 0 3 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 7 0 3 0 0 0 3
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 12 0 2 1 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 26 0 2 1 0 0 3
Genetic Services Laboratory, University of Chicago 0 7 0 1 1 0 0 2
GeneReviews 0 0 1 0 0 0 1 2
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 22 0 1 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 46 0 0 2 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 2 0 0 2
Vantari Genetics 0 1 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 1 0 0 2
OMIM 0 11 0 0 0 1 0 1
Baylor Miraca Genetics Laboratories, 0 14 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 15 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Department of Medical Genetics,University Hospital of North Norway 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 50 0 1 0 0 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 4 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 25 0 0 1 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) rs80359261
NM_000059.3(BRCA2):c.1909+22delT rs276174816
NM_000059.3(BRCA2):c.2287C>G (p.His763Asp) rs863224585
NM_000059.3(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.68-7delT rs276174878
NM_000059.3(BRCA2):c.681+56C>G rs2126042
NM_000059.3(BRCA2):c.681+56C>T rs2126042
NM_000059.3(BRCA2):c.6841+80_6841+83delTTAA rs11571661
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-15T>C rs1135401940
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.3(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.3(BRCA1):c.670+8C>T rs80358050
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.81-?_134+?del

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