ClinVar Miner

Variants from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine: Collection method of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine:
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
158 14 0 9 6 0 7 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 0 0 0
likely pathogenic 4 0 6 0 0
uncertain significance 0 1 0 1 2
likely benign 0 0 3 0 0

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 0 2 0 4 6
GeneDx 0 5 0 1 2 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 2 0 0 0 2
OMIM 0 5 0 1 0 0 0 1
Baylor Genetics 0 1 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 3 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
New York Genome Center 0 0 0 0 1 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_004608.3(TBX6):c.484G>A (p.Gly162Ser) rs56098093
NM_004608.3(TBX6):c.815G>A (p.Arg272Gln) rs201231713
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
NM_016955.4(SEPSECS):c.114+3A>G
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) rs1559602356
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773

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