ClinVar Miner

Variants from Laboratory of Medical Genetics,INSERM with conflicting interpretations

Location: France — Primary collection method: provider interpretation
Minimum review status of the submission from Laboratory of Medical Genetics,INSERM: Collection method of the submission from Laboratory of Medical Genetics,INSERM:
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
40 9 0 9 0 0 3 12

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
Laboratory of Medical Genetics,INSERM likely pathogenic uncertain significance
pathogenic 9 3

Submitter to submitter summary #

Total submitters: 9
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 3 0 4 0 0 2 6
Illumina Clinical Services Laboratory,Illumina 0 3 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 1 1
Ambry Genetics 0 1 0 1 0 0 0 1
Invitae 0 8 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_005548.2(KARS):c.599C>T (p.Pro200Leu) rs201650281
NM_014714.3(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.4(BBS1):c.951+1G>A rs746875134
NM_024685.3(BBS10):c.1091delA (p.Asn364Thrfs) rs727503818
NM_024685.3(BBS10):c.728_731delAAGA (p.Lys243Ilefs) rs786204671
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_152618.2(BBS12):c.1055A>C (p.Gln352Pro)
NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) rs587777803
NM_152618.2(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.2(BBS12):c.2023C>T (p.Arg675Ter) rs752202089

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