ClinVar Miner

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

Location: Oman — Primary collection method: curation
Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
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
110 47 4 32 6 10 44 76

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, Oman pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 3 17 8 0 0 2 1 1 0
likely pathogenic 14 0 3 1 1 0 0 1 0
uncertain significance 27 10 1 5 3 2 0 0 5
benign 1 0 1 1 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 45
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 28 0 7 1 7 19 33
GeneDx 0 22 0 8 2 0 11 21
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 12 0 3 0 2 15 20
Counsyl 0 19 0 9 1 0 6 16
Invitae 0 17 0 3 2 0 11 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 2 1 0 9 12
Illumina Clinical Services Laboratory,Illumina 0 6 0 4 3 0 5 12
Fulgent Genetics 0 12 0 3 0 0 8 11
Ambry Genetics 0 5 0 2 2 0 3 7
GeneReviews 0 9 3 2 0 0 2 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 3 0 0 3 6
Integrated Genetics/Laboratory Corporation of America 0 12 0 1 1 0 4 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 0 2 0 0 3 5
PharmGKB 0 0 0 0 0 4 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 3 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1 0 0 2 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 1 0 0 2 3
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 2 3
Baylor Miraca Genetics Laboratories, 0 2 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1 2
FirmaLab 0 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 1 0 1 2
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 5 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 1 0 1 0 0 0 1
PreventionGenetics 0 1 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 0 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 0 0 1 0 0 0 1
Color 0 2 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 0 0 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 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000030.2(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000048.3(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000137.2(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000196.3(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.3(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000263.3(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000342.3(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000359.2(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.2(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000391.3(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
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_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000481.3(AMT):c.982dup (p.Ala328Glyfs) rs1553638266
NM_000487.6(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000642.2(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.3(BCKDHA):c.788_790delTCT (p.Phe263del) rs398123505
NM_000933.3(PLCB4):c.1862G>A (p.Arg621His) rs397514481
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001077399.2(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_001252634.1(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001298.2(CNGA3):c.967G>C (p.Ala323Pro) rs146195955
NM_001918.3(DBT):c.75_76delAT (p.Cys26Trpfs) rs768832921
NM_001972.2(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.4(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) rs515726208
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003560.3(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_004273.4(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_005687.4(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_012463.3(ATP6V0A2):c.1929delA (p.Gln645Argfs) rs80356756
NM_012463.3(ATP6V0A2):c.294+1G>A rs80356751
NM_013328.3(PYCR2):c.355C>T (p.Arg119Cys) rs372781135
NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014625.3(NPHS2):c.467dup (p.Leu156Phefs) rs528833893
NM_014625.3(NPHS2):c.779T>A (p.Val260Glu) rs775006954
NM_016464.4(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_024306.4(FA2H):c.703C>T (p.Arg235Cys) rs387907039
NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032374.4(COA8):c.353T>C (p.Phe118Ser) rs587777786
NM_032667.6(BSCL2):c.814-2A>G rs879254029
NM_133436.3(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_133443.3(GPT2):c.815C>T (p.Pro272Leu) rs886038199
NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153704.5(TMEM67):c.383_384delAC (p.His128Leufs) rs386834200

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.