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:
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
99 88 16 70 23 13 29 119

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 drug response protective risk factor other
pathogenic 15 40 12 4 3 4 1 4 7
likely pathogenic 30 1 11 1 1 0 0 0 0
uncertain significance 3 2 0 19 9 0 0 0 0

Submitter to submitter summary #

Total submitters: 59
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
OMIM 0 41 0 14 0 10 5 29
Invitae 0 56 0 11 9 0 6 26
GeneDx 0 81 0 14 7 0 4 25
GeneReviews 0 13 15 4 0 0 2 20
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 67 0 6 10 0 2 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 60 0 12 2 2 2 18
Illumina Clinical Services Laboratory,Illumina 0 51 0 10 0 0 8 17
Counsyl 0 42 0 13 0 0 1 14
Ambry Genetics 0 36 0 8 3 0 1 12
Integrated Genetics/Laboratory Corporation of America 0 31 0 8 1 0 1 10
Fulgent Genetics 0 38 0 9 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 15 0 4 1 0 3 8
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 0 0 6 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 18 0 4 1 0 1 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 23 0 2 1 0 2 5
PharmGKB 0 0 0 0 0 4 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 4 0 0 0 4
NIHR Bioresource Rare Diseases,University of Cambridge 0 2 0 4 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 3 4
Athena Diagnostics Inc 0 9 0 2 0 0 1 3
PreventionGenetics 0 2 0 0 0 0 3 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 7 0 2 0 0 1 3
Blueprint Genetics, 0 4 0 1 2 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 5 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 0 2 0 0 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 8 0 1 0 0 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 6 0 0 0 0 2 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 6 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 1 0 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 0 0 2 0 0 2
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 1 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 7 0 0 1 0 1 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 3 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 1 1
GeneKor MSA 0 1 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 5 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 12 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel, 0 3 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 5 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 1 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

All variants with conflicting interpretations #

Total variants: 119
Download table as spreadsheet
HGVS dbSNP
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000173.6(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000235.3(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000257.2(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000277.1(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000303.2(PMM2):c.255+1G>A rs1060499598
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000339.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_000339.2(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.3(GLB1):c.245+1G>A rs778423653
NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000441.1(SLC26A4):c.2089+1G>A rs727503430
NM_000478.4(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000642.2(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.2(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.2(AGL):c.664+3A>G rs370792293
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_001001547.2(CD36):c.1254+1G>A rs148051111
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001035.2(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001041.3(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.3(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128228.2(TPRN):c.2023G>A (p.Ala675Thr) rs139520402
NM_001128228.2(TPRN):c.2057C>T (p.Pro686Leu) rs727503520
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001148.4(ANK2):c.2060A>G (p.Asn687Ser) rs29372
NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) rs61744602
NM_001277269.1(OTOG):c.935A>G (p.His312Arg) rs189159426
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004086.2(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004415.2(DSP):c.928dupG (p.Glu310Glyfs) rs794728137
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_005476.5(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005609.2(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.3(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn) rs148920964
NM_006267.4(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_007075.3(WDR45):c.400C>T (p.Arg134Ter) rs797046101
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_015404.3(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016239.3(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_017636.3(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826
NM_020451.2(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_024120.4(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_030632.2(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030777.3(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960
NM_031475.2(ESPN):c.1048C>T (p.Pro350Ser) rs115143295
NM_031889.2(ENAM):c.1259_1260insAG (p.Pro422Valfs) rs587776588
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_058216.2(RAD51C):c.706-2A>G rs587780259
NM_138694.3(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051

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