ClinVar Miner

Variants from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University with conflicting interpretations

Location: Oman  Primary collection method: curation
Minimum review status of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University: Collection method of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University:
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
126 63 0 41 8 1 43 86

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 Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 24 9 0 0 1
likely pathogenic 17 0 3 0 0 0
uncertain significance 25 12 0 4 3 0
benign 1 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 67
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 36 0 9 0 1 15 25
Baylor Genetics 0 30 0 9 1 0 5 15
Invitae 0 37 0 3 2 0 10 15
Counsyl 0 12 0 5 1 0 4 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 13 0 4 1 0 5 10
Revvity Omics, Revvity 0 9 0 2 1 0 4 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 15 0 3 0 0 4 7
Mendelics 0 12 0 1 2 0 3 6
Fulgent Genetics, Fulgent Genetics 0 10 0 4 0 0 2 6
3billion 0 9 0 3 0 0 3 6
Natera, Inc. 0 17 0 3 0 0 2 5
Illumina Laboratory Services, Illumina 0 12 0 2 2 0 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 2 0 0 2 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 2 4
Genome-Nilou Lab 0 10 0 3 0 0 1 4
Neuberg Centre For Genomic Medicine, NCGM 0 9 0 1 0 0 3 4
MGZ Medical Genetics Center 0 3 0 1 0 0 2 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 6 0 1 0 0 2 3
Myriad Genetics, Inc. 0 8 0 3 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 3 0 1 0 0 1 2
Lifecell International Pvt. Ltd 0 1 0 0 0 0 2 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 3 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 0 0 0 1
Ambry Genetics 0 4 0 0 0 0 1 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 3 0 0 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1 1
Institute of Human Genetics, University of Ulm 0 0 0 1 0 0 0 1
Sema4, Sema4 0 0 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 5 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Centre for Translational Omics - GOSgene, University College London 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 1 0 1 0 0 0 1
DASA 0 4 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 0 0 0 1 1
Houlden Lab, UCL Institute of Neurology 0 0 0 0 0 0 1 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 1 0 0 0 1
Dunham Lab, University of Washington 0 1 0 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) rs119485090 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) rs760526545 0.00001
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014849.5(SV2A):c.865C>T (p.Arg289Ter)
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048

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