ClinVar Miner

Variants from Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer with conflicting interpretations

Location: Spain — Primary collection method: clinical testing
Minimum review status of the submission from Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer: Collection method of the submission from Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer:
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
2 0 0 2 0 0 3 5

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
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer pathogenic uncertain significance likely benign
pathogenic 0 1 0
likely pathogenic 2 2 1

Submitter to submitter summary #

Total submitters: 11
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
Counsyl 0 0 0 1 0 0 2 3
Invitae 0 0 0 1 0 0 2 3
Color 0 0 0 2 0 0 1 3
Ambry Genetics 0 0 0 1 0 0 1 2
GeneDx 0 1 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 0 1 1
True Health Diagnostics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.4963delT (p.Tyr1655Thrfs) rs886040557
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_032043.2(BRIP1):c.1702_1703delAA (p.Asn568Trpfs) rs1057519365

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