ClinVar Miner

Variants from Laboratoire de Génétique Moléculaire, CHU Bordeaux with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Laboratoire de Génétique Moléculaire, CHU Bordeaux: Collection method of the submission from Laboratoire de Génétique Moléculaire, CHU Bordeaux:
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
86 16 0 8 0 0 6 14

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 Génétique Moléculaire, CHU Bordeaux pathogenic likely pathogenic uncertain significance
pathogenic 0 4 2
likely pathogenic 4 0 4

Submitter to submitter summary #

Total submitters: 15
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
GeneDx 0 10 0 5 0 0 2 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 0 4 0 0 1 5
Athena Diagnostics Inc 0 1 0 2 0 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 0 2 0 0 1 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 0 1
Ambry Genetics 0 2 0 0 0 0 1 1
Invitae 0 6 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 4 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001005463.3(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001320.6(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_005859.5(PURA):c.98del (p.Gly33fs) rs1581036073
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679

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