ClinVar Miner

Variants from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children: Collection method of the submission from Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children:
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
58 48 3 44 7 2 13 61

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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 3 17 2 0 0 1
likely pathogenic 23 0 6 1 0 0
uncertain significance 4 1 0 6 2 0
likely benign 0 0 0 0 2 0
benign 0 0 1 2 0 0
risk factor 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 55
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
Invitae 0 37 0 13 4 0 5 22
GeneDx 0 37 0 17 2 0 2 21
OMIM 0 34 0 14 0 1 3 18
Integrated Genetics/Laboratory Corporation of America 0 23 0 5 2 0 3 10
Athena Diagnostics Inc 0 8 0 5 0 0 4 9
Genetic Services Laboratory, University of Chicago 0 8 0 6 1 0 2 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 27 0 8 1 0 0 9
GeneReviews 0 9 3 5 0 0 1 9
RettBASE 0 15 0 6 0 0 3 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 18 0 4 0 0 2 6
Ambry Genetics 0 16 0 5 0 0 1 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 24 0 5 0 0 1 6
Database of Curated Mutations (DoCM) 0 2 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 23 0 5 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 6 0 2 0 0 2 4
ClinGen RASopathy Variant Curation Expert Panel 0 12 0 2 2 0 0 4
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 0 2 0 1 0 0 2 3
Blueprint Genetics 0 12 0 3 0 0 0 3
Baylor Genetics 0 16 0 2 0 0 0 2
Center for Human Genetics, Inc 0 7 0 1 1 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 1 2
Institute of Human Genetics,Klinikum rechts der Isar 0 5 0 1 0 0 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 3 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 10 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 3 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
Mendelics 0 2 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 8 0 1 0 0 0 1
Genesis Genome Database 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000344.3(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_000782.5(CYP24A1):c.425_427AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736
NM_001110792.2(MECP2):c.1198_1203CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366

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