ClinVar Miner

Variants from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille: Collection method of the submission from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille:
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
1135 23 0 14 2 0 5 20

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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille pathogenic likely pathogenic uncertain significance
pathogenic 0 10 0
likely pathogenic 4 0 4
uncertain significance 0 1 0
likely benign 0 0 2

Submitter to submitter summary #

Total submitters: 16
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 5 0 2 1 0 1 4
OMIM 0 9 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 1 2
New York Genome Center 0 2 0 1 1 0 0 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 0 0 1
RettBASE 0 2 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001356.4(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_004380.3(CREBBP):c.3779+1G>C
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) rs797045047
NM_017890.4(VPS13B):c.9070-2A>G rs1554569259
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) rs755745002
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378

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