ClinVar Miner

Variants from Service de Génétique Moléculaire,Hôpital Robert Debré with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Service de Génétique Moléculaire,Hôpital Robert Debré: Collection method of the submission from Service de Génétique Moléculaire,Hôpital Robert Debré:
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
19 16 0 11 5 0 9 25

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
Service de Génétique Moléculaire,Hôpital Robert Debré pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 9 0 2 0 0
uncertain significance 4 5 0 2 2
likely benign 0 0 3 0 1

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 12 0 8 4 0 3 15
Invitae 0 12 0 4 3 0 2 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 9 0 1 3 0 3 7
Database of Curated Mutations (DoCM) 0 2 0 1 0 0 3 4
ClinGen RASopathy Variant Curation Expert Panel 0 3 0 2 2 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 1 1 0 1 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 0 1
Mendelics 0 0 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 4 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980

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