ClinVar Miner

Variants from Division of Human Genetics, Children's Hospital of Philadelphia with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Division of Human Genetics, Children's Hospital of Philadelphia: Collection method of the submission from Division of Human Genetics, Children's Hospital of Philadelphia:
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
113 75 1 87 18 2 30 122

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
Division of Human Genetics, Children's Hospital of Philadelphia pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 1 45 10 3 2 2
likely pathogenic 42 0 12 1 1 0
uncertain significance 5 5 0 16 4 0

Submitter to submitter summary #

Total submitters: 106
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 50 1 21 9 0 10 41
Fulgent Genetics, Fulgent Genetics 0 57 0 18 1 0 2 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 30 0 13 1 0 3 17
Natera, Inc. 0 38 0 11 2 0 2 15
Baylor Genetics 0 46 0 13 0 0 1 14
OMIM 0 34 0 7 0 2 2 11
Revvity Omics, Revvity 0 29 0 9 0 0 2 11
Counsyl 0 9 0 6 0 0 3 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 19 0 4 1 0 4 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 29 0 7 0 0 2 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 8 0 0 0 8
Illumina Laboratory Services, Illumina 0 44 0 6 1 0 1 8
3billion 0 22 0 6 0 0 1 7
Genome-Nilou Lab 0 18 0 5 0 0 2 7
Institute of Human Genetics, University of Leipzig Medical Center 0 21 0 6 0 0 1 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 11 0 6 0 0 0 6
Mendelics 0 15 0 3 0 0 3 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 18 0 5 0 0 0 5
MGZ Medical Genetics Center 0 7 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 10 0 1 1 0 2 4
GeneDx 0 6 0 0 1 0 3 4
Genetic Services Laboratory, University of Chicago 0 7 0 2 1 0 1 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 3 0 0 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 13 0 4 0 0 0 4
Myriad Genetics, Inc. 0 23 0 3 0 0 1 4
Variantyx, Inc. 0 16 0 4 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 12 0 2 0 0 1 3
Genetics and Molecular Pathology, SA Pathology 0 8 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 4 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 2 3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 2 0 0 1 3
Aleixo Muise Laboratory, Hospital For Sick Children 0 0 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 3 0 1 1 0 0 2
Ambry Genetics 0 5 0 1 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 0 0 0 2 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 1 0 0 1 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 7 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 4 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 8 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 2 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 18 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 9 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 4 0 1 0 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 9 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 5 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 6 0 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 4 0 0 2 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 3 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1 1
Athena Diagnostics 0 1 0 0 0 0 1 1
Biochemistry Department, Nishtar Medical University 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 0 0 0 1 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 12 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 4 0 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 3 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 4 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Dasa 0 11 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 2 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 8 0 0 1 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 2 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 1 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 1 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 1 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 0 0 1 0 0 0 1
H3Africa Consortium 0 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 4 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 4 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 10 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 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
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 12 0 1 0 0 0 1
Leiden Open Variation Database 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 2 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Otogenetics 0 2 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
Suma Genomics 0 4 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 9 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 2 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 122
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00307
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00283
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00183
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00133
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00128
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00123
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00065
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00064
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00052
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00042
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00036
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00031
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00030
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser) rs121908188 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00019
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00019
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00005
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_153700.2(STRC):c.4701+1G>A rs199839039 0.00003
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576 0.00001
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104 0.00001
NC_000015.10:g.43600609_43600610delinsAG rs727503441
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

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