ClinVar Miner

Variants from Molecular Diagnostics Lab, Nemours Children's Health, Delaware with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware: Collection method of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware:
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
158 65 1 51 7 2 18 76

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 Children's Health, Delaware pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele
pathogenic 0 13 1 0 0 0
likely pathogenic 37 1 7 1 0 0
uncertain significance 7 4 0 6 2 0
likely benign 0 0 0 0 1 0
risk factor 1 0 1 1 1 1

Submitter to submitter summary #

Total submitters: 95
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 9 0 11 3 2 6 22
GeneDx 0 28 0 7 4 1 3 15
OMIM 0 22 0 10 0 0 2 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 8 2 0 1 11
Athena Diagnostics Inc 0 8 0 4 0 0 4 8
CeGaT Center for Human Genetics Tuebingen 0 12 0 4 3 0 1 8
Genetic Services Laboratory, University of Chicago 0 8 0 6 1 0 0 7
Centre for Population Genomics, CPG 0 6 0 6 1 0 0 7
Natera, Inc. 0 8 0 5 0 0 1 6
RettBASE 0 10 0 4 0 0 1 5
Baylor Genetics 0 14 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 0 1 0 3 4
Ambry Genetics 0 11 0 1 2 0 1 4
Revvity Omics, Revvity 0 13 0 2 0 0 2 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 12 0 1 0 0 2 3
PreventionGenetics, part of Exact Sciences 0 15 0 1 2 0 0 3
Eurofins Ntd Llc (ga) 0 18 0 2 0 0 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 3 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 10 0 1 0 0 2 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 0 1 0 0 2 3
3billion 0 6 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 0 7 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 1 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 2 0 0 0 2
Myriad Genetics, Inc. 0 4 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 2 0 0 0 2
Genome-Nilou Lab 0 5 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 6 0 2 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 4 0 1 0 0 0 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 2 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 0 0 0 1 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 0 0 0 1
Counsyl 0 3 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Blueprint Genetics 0 9 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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 and Genomics, 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 3 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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 0 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
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 0 0 0 1 1
ClinGen RASopathy Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 2 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
DASA 0 2 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_003661.4(APOL1):c.1104T>G (p.Ala368=) rs1428826948 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
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.772_779delinsGTG (p.Met258fs) rs267608520
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_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
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.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528

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