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 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
0 1 0 5 1 0 9 9

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
pathogenic 0 5 7 1
likely pathogenic 0 0 1 0
likely benign 1 1 1 0

Submitter to submitter summary #

Total submitters: 20
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
Sharing Clinical Reports Project (SCRP) 0 0 0 1 0 0 5 6
GeneDx 0 0 0 2 1 0 2 5
Ambry Genetics 0 1 0 2 1 0 2 5
Invitae 0 1 0 0 1 0 4 5
Color 0 0 0 1 0 0 4 5
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 1 0 3 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1 0 1 3
Mendelics 0 0 0 2 0 0 1 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 2 0 0 1 3
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 1
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 0 0 0 1 1
Fulgent Genetics 0 0 0 0 1 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 1 0 0 1
Pathway Genomics 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 0 1 0 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 0 0 0 1 1
Department of Pathology and Molecular Medicine,Queen's University 0 0 0 0 0 0 1 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4357+6T>C rs80358143
NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC rs879254224
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935

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