ClinVar Miner

Variants from Hadassah Hebrew University Medical Center with conflicting interpretations

Location: Israel  Primary collection method: clinical testing
Minimum review status of the submission from Hadassah Hebrew University Medical Center: Collection method of the submission from Hadassah Hebrew University Medical Center:
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
224 56 1 60 2 2 25 77

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
Hadassah Hebrew University Medical Center pathogenic likely pathogenic uncertain significance likely benign drug response
pathogenic 1 29 10 0 2
likely pathogenic 32 0 11 1 0
uncertain significance 2 1 0 0 0
likely benign 0 0 2 0 0

Submitter to submitter summary #

Total submitters: 97
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
OMIM 0 33 1 16 0 0 4 21
Labcorp Genetics (formerly Invitae), Labcorp 0 27 0 7 1 0 4 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 13 0 7 0 0 1 8
Natera, Inc. 0 22 0 6 0 0 2 8
Revvity Omics, Revvity 0 13 0 7 0 0 1 8
3billion 0 16 0 5 0 0 2 7
Baylor Genetics 0 21 0 5 0 0 2 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 12 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 20 0 6 0 0 0 6
All of Us Research Program, National Institutes of Health 0 5 0 5 0 0 0 5
Color Diagnostics, LLC DBA Color Health 0 4 0 5 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 0 4 0 0 1 5
Genome-Nilou Lab 0 12 0 3 0 0 2 5
LDLR-LOVD, British Heart Foundation 0 1 0 4 0 0 1 5
Illumina Laboratory Services, Illumina 0 14 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 18 0 3 0 0 1 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 20 0 4 0 0 0 4
MGZ Medical Genetics Center 0 12 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 1 0 0 2 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 3 0 0 0 3
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 2 0 0 1 3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 1 0 3 0 0 0 3
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 4 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 0 4 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 12 0 3 0 0 0 3
Myriad Genetics, Inc. 0 17 0 3 0 0 0 3
New York Genome Center 0 7 0 2 0 0 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 23 0 2 0 0 1 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 19 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 4 0 2 0 0 0 2
Counsyl 0 8 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 1 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 2 0 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 1 0 0 0 0 2 2
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 2 0 0 0 2
Variantyx, Inc. 0 9 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 1 0 0 0 1
Ambry Genetics 0 3 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 0 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 2 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 8 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
ClinGen ABCA4 Variant Curation Expert Panel, Clingen 0 0 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 0 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 5 0 1 0 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 4 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 6 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 1 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Dasa 0 6 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 10 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
GeneDx 0 4 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 1 0 0 0 1
Institute for Human Genetics, University Medical Center Freiburg 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 3 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
Mendelics 0 8 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 3 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO) 0 1 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 3 0 1 0 0 0 1
Otogenetics 0 1 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 0 1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 6 0 1 0 0 0 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00005
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00003
NM_138964.4(PROKR1):c.355G>A (p.Glu119Lys) rs140225124 0.00003
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter) rs587777772 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn) rs1557162761 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617 0.00001
NM_024079.5(ALG8):c.478C>T (p.His160Tyr) rs763583384 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NC_012920.1(MT-RNR1):m.1555A>G rs267606617
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000232.5(SGCB):c.630C>G (p.Ser210Arg) rs2109370066
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000454.5(SOD1):c.357_357+2del rs2123435651
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs) rs2519167657
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys) rs2519167041
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro) rs200238845
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_003031.4(SIAH1):c.529G>C (p.Asp177His) rs2544513815
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter) rs1463026342
NM_005050.4(ABCD4):c.1753-12G>A rs930102975
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) rs1574443257
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter) rs767832540
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329

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