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 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
162 60 8 60 11 3 25 88

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 8 29 9 2 2 3
likely pathogenic 31 0 9 1 1 0
uncertain significance 2 3 0 10 2 0

Submitter to submitter summary #

Total submitters: 53
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 47 0 15 6 0 6 27
Illumina Clinical Services Laboratory,Illumina 0 40 0 8 1 0 4 13
OMIM 0 32 0 7 0 3 2 12
GeneReviews 0 11 8 3 0 0 1 12
Counsyl 0 9 0 7 0 0 3 10
Integrated Genetics/Laboratory Corporation of America 0 22 0 7 0 0 2 9
Natera, Inc. 0 17 0 5 2 0 1 8
Fulgent Genetics,Fulgent Genetics 0 23 0 8 0 0 0 8
Mendelics 0 15 0 2 0 0 3 5
Myriad Women's Health, Inc. 0 20 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 10 0 3 1 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 13 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 1 0 0 3 4
Baylor Genetics 0 23 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 1 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
Reproductive Health Research and Development,BGI Genomics 0 3 0 3 0 0 0 3
GeneDx 0 3 0 0 1 0 1 2
Ambry Genetics 0 2 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 2 0 0 0 0 2 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 6 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 7 0 0 1 0 1 2
Broad Institute Rare Disease Group, Broad Institute 0 3 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 6 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Blueprint Genetics 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 2 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 7 0 0 0 0 1 1
Research and Development, 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 3 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 1 1
Leiden Open Variation Database 0 0 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
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 7 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 7 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
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 1 0 0 0 1
LifeCell International Pvt. Ltd 0 0 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000249.4(MLH1):c.1943C>T rs63750610
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001128840.3(CACNA1D):c.1220+678G>A rs386834264
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
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_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.