ClinVar Miner

Variants from Department of Molecular Genetics, Istishari Arab Hospital with conflicting interpretations

Location: Palestine, State of  Primary collection method: clinical testing
Minimum review status of the submission from Department of Molecular Genetics, Istishari Arab Hospital: Collection method of the submission from Department of Molecular Genetics, Istishari Arab Hospital:
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
123 51 0 38 0 1 10 44

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
Department of Molecular Genetics, Istishari Arab Hospital pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 0 26 5 1 1 1
likely pathogenic 12 0 4 0 0 0
uncertain significance 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 68
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 29 0 3 0 0 4 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 12 0 6 0 0 0 6
3billion 0 17 0 5 0 0 0 5
Baylor Genetics 0 19 0 4 0 0 0 4
Genome-Nilou Lab 0 14 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 4 0 0 0 4
OMIM 0 25 0 4 0 0 0 4
Revvity Omics, Revvity 0 12 0 2 0 0 2 4
Color Diagnostics, LLC DBA Color Health 0 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 6 0 3 0 0 0 3
Myriad Genetics, Inc. 0 7 0 3 0 0 0 3
Natera, Inc. 0 13 0 2 0 0 1 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 17 0 3 0 0 0 3
All of Us Research Program, National Institutes of Health 0 1 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 5 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 1 2
ClinGen PAH Variant Curation Expert Panel 0 2 0 2 0 0 0 2
Counsyl 0 2 0 2 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 0 2 0 1 0 0 1 2
Department of Human Genetics, Hannover Medical School 0 3 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 14 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 16 0 2 0 0 0 2
Arcensus 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 1 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
Hereditary Research Laboratory, Bethlehem University 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 6 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 4 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 1 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 6 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 0 1 0 0 0 1
Mendelics 0 8 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 0 0 1 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 0 1 0 0 0 1
Sema4, Sema4 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
Variantyx, Inc. 0 5 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00027
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_001622.4(AHSG):c.950G>A (p.Arg317His) rs201849460 0.00004
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_002772.3(TMPRSS15):c.2611C>T (p.Arg871Ter) rs767258888 0.00002
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000277.3(PAH):c.169_171del rs199475665
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter) rs182208325
NM_001082971.2(DDC):c.231C>A (p.Phe77Leu) rs751519679
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001170629.2(CHD8):c.6447_6450del (p.Arg2150fs)
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_002801.4(PSMB10):c.56+1G>A
NM_004826.4(ECEL1):c.80del (p.Gly27fs) rs1370507095
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_016194.4(GNB5):c.863G>A (p.Arg288Gln) rs755832695
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.