ClinVar Miner

Variants from Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse: Collection method of the submission from Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse:
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
1 1 0 3 1 0 2 6

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
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
uncertain significance 1 0 0 1 1

Submitter to submitter summary #

Total submitters: 11
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
BRCAlab, Lund University 0 0 0 1 1 0 1 3
Sharing Clinical Reports Project (SCRP) 0 1 0 1 1 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 0 1 0 1 2
Myriad Genetics, Inc. 0 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 0 0 0 1 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.