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
24 15 0 18 2 0 20 39

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 benign
pathogenic 0 10 3 0
likely pathogenic 7 0 17 0
likely benign 0 0 2 1

Submitter to submitter summary #

Total submitters: 6
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 19 0 13 1 0 19 33
Integrated Genetics/Laboratory Corporation of America 0 6 0 6 0 0 0 6
Mendelics 0 3 0 3 1 0 1 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
Breast Center,Key Laboratory of Carcinogenesis and Translational Research 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995
NM_000059.3(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.3(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.3(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.3(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.3(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.6(TP53):c.794T>A (p.Leu265Gln)
NM_004329.2(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
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_442-13del rs879254224
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
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

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