ClinVar Miner

Variants from Cancer Variant Interpretation Group UK, Institute of Cancer Research, London with conflicting interpretations

Location: United Kingdom  Primary collection method: clinical testing
Minimum review status of the submission from Cancer Variant Interpretation Group UK, Institute of Cancer Research, London: Collection method of the submission from Cancer Variant Interpretation Group UK, Institute of Cancer Research, London:
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
27 27 0 22 3 0 20 43

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
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 3 0 0
likely pathogenic 13 0 16 0 0
uncertain significance 0 1 0 1 0
likely benign 0 0 2 0 1

Submitter to submitter summary #

Total submitters: 25
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
Invitae 0 29 0 15 2 0 17 34
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 6 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 11 0 6 0 0 0 6
Counsyl 0 2 0 1 0 0 1 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 2 0 0 0 2
Baylor Genetics 0 0 0 1 0 0 0 1
Ambry Genetics 0 4 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Mendelics 0 1 0 0 1 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 1 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 3 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 2 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 0 0 1 0 0 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
Myriad Genetics, Inc. 0 2 0 1 0 0 0 1
Genome-Nilou Lab 0 5 0 0 0 0 1 1
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 0 0 0 0 0 0 1 1
Genetics Program, Instituto Nacional de Cancer 0 0 0 1 0 0 0 1
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 0 0 1 0 0 0 1
DASA 0 0 0 1 0 0 0 1
BRCAlab, Lund University 0 1 0 0 0 0 1 1
All of Us Research Program, National Institutes of Health 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) rs55647716
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.442-22_442-13del rs879254224
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212

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