ClinVar Miner

Variants from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles with conflicting interpretations

Location: Belgium — Primary collection method: clinical testing
Minimum review status of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles: Collection method of the submission from Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles:
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
15 5 3 5 0 0 3 10

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
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles pathogenic likely pathogenic uncertain significance
pathogenic 3 3 2
likely pathogenic 2 0 1

Submitter to submitter summary #

Total submitters: 7
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
GeneReviews 0 0 3 0 0 0 0 3
OMIM 0 3 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 0 0 2 2
Counsyl 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 1 0 0 0 1
New York Genome Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184

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