ClinVar Miner

Variants from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre with conflicting interpretations

Location: Saudi Arabia — Primary collection method: research
Minimum review status of the submission from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre:
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
514 18 0 54 4 1 44 99

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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre pathogenic likely pathogenic uncertain significance likely benign benign drug response protective other
likely pathogenic 46 0 36 7 6 1 1 1
uncertain significance 2 1 0 0 0 0 0 0
likely benign 0 0 4 0 8 0 0 0

Submitter to submitter summary #

Total submitters: 57
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
GeneDx 0 5 0 15 1 0 15 30
Faculty of Health Sciences,Beirut Arab University 0 0 0 25 0 0 0 25
Invitae 0 4 0 9 1 0 9 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 0 6 1 1 12 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 1 1 0 8 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 5 0 0 4 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 1 0 0 5 6
PreventionGenetics, PreventionGenetics 0 0 0 4 0 0 1 5
Baylor Genetics 0 1 0 3 0 0 1 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 3 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 2 0 0 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 2 3
OMIM 0 1 0 2 0 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 0 0 1 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 1 0 0 2 2
Ambry Genetics 0 1 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000092.4(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000254.3(MTR):c.3518C>T rs121913578
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000426.3(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001142301.1(TMEM67):c.1170-2A>G rs786205608
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610
NM_002501.4(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.3922-3C>T rs786205603
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_006204.4(PDE6C):c.939+5G>A rs374805348
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816
NM_020297.3(ABCC9):c.1603T>C (p.Tyr535His) rs397517184
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846
NM_022067.4(VIPAS39):c.136G>A (p.Val46Met) rs148360332
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_024649.5(BBS1):c.951+58C>T
NM_025000.4(DCAF17):c.322-14C>T rs192861143
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) rs751931568
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.3516+10G>C rs76264143
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
Single allele rs1555293215

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