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 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
82 47 0 24 6 1 8 38

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
pathogenic 0 3 1 0 0
likely pathogenic 20 0 3 1 0
uncertain significance 4 0 0 5 1
benign 0 0 0 1 0
risk factor 1 0 1 0 0

Submitter to submitter summary #

Total submitters: 50
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
GeneDx 0 24 0 6 2 0 2 10
Invitae 0 5 0 3 3 1 1 8
OMIM 0 12 0 6 0 0 1 7
Athena Diagnostics Inc 0 5 0 3 0 0 4 7
Genetic Services Laboratory, University of Chicago 0 6 0 6 1 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 6 0 4 2 0 0 6
RettBASE 0 9 0 4 0 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 3 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 11 0 1 0 0 2 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 18 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 2 0 0 1 3
Baylor Genetics 0 3 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 10 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 3 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 0 1 0 0 1
Ambry Genetics 0 3 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
GeneReviews 0 4 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 2 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1 1
Blueprint Genetics 0 7 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Color Health, Inc 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1 0 1
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 0 0 0 1 1
ClinGen RASopathy Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
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.93_96dup (p.Ile33Ter) rs1554081950
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_000782.5(CYP24A1):c.425AAG[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.1096C>T (p.Arg366Cys) rs143876280
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
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.437C>G (p.Ser146Cys) rs61748390
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.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) rs121913348
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) rs180177038
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
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.1574T>C (p.Leu525Pro) rs869025340
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528

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