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:

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
383 69 0 43 22 0 19 80

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 12 3 0 2
likely pathogenic 28 0 6 1 0
uncertain significance 2 3 0 5 1
likely benign 1 2 16 0 3

Submitter to submitter summary #

Total submitters: 44
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
Labcorp Genetics (formerly Invitae), Labcorp 0 16 0 9 11 0 3 23
GeneDx 0 12 0 7 1 0 2 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 3 0 0 5 8
Illumina Laboratory Services, Illumina 0 5 0 0 5 0 0 5
Baylor Genetics 0 11 0 2 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 2 0 0 2 4
Natera, Inc. 0 3 0 2 0 0 2 4
OMIM 0 20 0 3 0 0 1 4
Fulgent Genetics, Fulgent Genetics 0 8 0 0 2 0 1 3
Genome-Nilou Lab 0 6 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 11 0 3 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 7 0 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 2 0 0 0 2
Mendelics 0 1 0 1 1 0 0 2
Revvity Omics, Revvity 0 16 0 1 0 0 1 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 1 1 0 0 2
3billion 0 10 0 1 0 0 0 1
Blueprint Genetics 0 2 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 1 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 2 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 3 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 1 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 5 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 2 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 1 1
New York Genome Center 0 3 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 4 0 0 1 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 4 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00594
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00025
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00025
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) rs113362230 0.00019
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_133379.5(TTN):c.16282G>A (p.Val5428Met) rs199565262 0.00010
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln) rs748643730 0.00009
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter) rs202058504 0.00009
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_001195553.2(DCX):c.-22-364C>T rs761786389 0.00003
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His) rs1267156657 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs) rs770253928 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001429.4(EP300):c.4172+5del rs780518563 0.00001
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) rs2497598118
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val) rs760488868
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His) rs796053374
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His) rs751765649
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) rs757336022
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly) rs587777458
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs) rs2545122691
NM_001356.5(DDX3X):c.454dup (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.596G>A (p.Arg199His) rs755750366
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs) rs1794569741
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys) rs1792120689
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys) rs2465736021
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_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser) rs2120652049
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter) rs1227480400
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs) rs2492536872
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs) rs2544237769
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter) rs766022812
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser) rs1589061488
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter) rs754764007
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn) rs2490789575
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs) rs2093221854
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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