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 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
408 57 8 26 13 0 16 59

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 6 6 4 0 2
likely pathogenic 18 2 2 0 0
uncertain significance 2 4 0 3 1
likely benign 0 2 9 0 2

Submitter to submitter summary #

Total submitters: 29
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 12 0 7 4 0 2 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 10 0 2 0 0 6 8
GeneReviews 0 4 6 1 1 0 0 8
GeneDx 0 8 0 5 1 0 1 7
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 5 0 1 6
Baylor Genetics 0 7 0 2 1 0 0 3
OMIM 0 19 0 2 0 0 0 2
Natera, Inc. 0 1 0 1 0 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 2 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 0 2 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 3 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 1 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 1 0 0 0 1
ClinGen RASopathy Variant Curation Expert Panel 0 1 0 0 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 0 2 0 1 0 0 0 1
New York Genome Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001042384.2(CEP63):c.930-1G>A rs752207334
NM_001110792.2(MECP2):c.414-3C>T rs267608465
NM_001195553.2(DCX):c.-22-364C>T rs761786389
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) rs759611506
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
NM_001353108.3(CEP63):c.790-2A>G
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_014321.4(ORC6):c.449+5G>A rs572314014
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) rs113362230
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser) rs1589061488
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_017890.4(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291
NM_017890.4(VPS13B):c.5331dup (p.Asp1778Ter) rs386834094
NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) rs138930771
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394
NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) rs1559602356
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003

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