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 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
375 18 0 101 8 1 50 155

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 risk factor
pathogenic 0 8 0 0 0 0
likely pathogenic 94 0 44 8 6 1
likely benign 0 0 8 0 5 0

Submitter to submitter summary #

Total submitters: 52
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 5 0 62 0 1 1 64
GeneDx 0 8 0 20 1 0 15 36
Invitae 0 1 0 7 3 0 14 24
Illumina Clinical Services Laboratory,Illumina 0 1 0 6 3 0 11 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 5 0 5 1 0 12 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 2 1 0 8 11
Genetic Services Laboratory, University of Chicago 0 3 0 6 0 0 3 9
Counsyl 0 2 0 4 1 0 4 9
Fulgent Genetics 0 1 0 3 0 0 4 7
PreventionGenetics 0 0 0 5 0 0 1 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 533 9 0 6 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 4 0 0 1 5
Baylor Miraca Genetics Laboratories, 0 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 2 3
Ambry Genetics 0 1 0 1 0 0 2 3
GeneReviews 0 0 0 3 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 2 0 0 1 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 0 1 3
Athena Diagnostics Inc 0 1 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 1 2
Blueprint Genetics, 0 0 0 0 0 0 2 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 1 2
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 1 2
Color 0 0 0 0 0 0 2 2
Human Genetics - Radboudumc,Radboudumc 0 0 0 2 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 1 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 155
Download table as spreadsheet
HGVS dbSNP
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000092.4(COL4A4):c.2420delG (p.Gly807Valfs) rs786205640
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000152.4(GAA):c.1327-18A>G rs2278619
NM_000181.3(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs) rs1555090368
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000379.3(XDH):c.3276+12A>G rs1366813
NM_000390.2(CHM):c.1144G>T (p.Glu382Ter) rs786205604
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000405.4(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000426.3(LAMA2):c.1762delG (p.Ala588Leufs) rs786205654
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_001007026.1(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001031726.3(C19orf12):c.157G>A (p.Gly53Arg) rs200133991
NM_001033855.2(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001039348.2(EFEMP1):c.*6delT rs200536754
NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile) rs397514753
NM_001079812.2(DIAPH1):c.2305C>T (p.Gln769Ter) rs730882242
NM_001080449.2(DNA2):c.3114+6delC rs587777614
NM_001082538.2(TCTN1):c.342-2A>G rs730882221
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001127394.3(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_001128303.2(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_001134832.1(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001148.4(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.4(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001163809.1(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) rs201406974
NM_001199398.1(NEK1):c.1558_1559del (p.Met520Valfs) rs786205645
NM_001256850.1(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001256850.1(TTN):c.78358G>A (p.Val26120Ile) rs371788070
NM_001256850.1(TTN):c.93098G>A (p.Arg31033His) rs750969198
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001271043.2(NFIX):c.544G>T (p.Glu182Ter) rs786205515
NM_001278689.1(EOGT):c.1074delA (p.Gly359Aspfs) rs587776994
NM_001287489.1(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) rs730882250
NM_001701.3(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.4(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550
NM_002408.3(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002838.4(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002972.3(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004281.3(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004426.2(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004560.3(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004722.3(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004738.4(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004826.3(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189
NM_005641.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_005691.3(ABCC9):c.1603T>C (p.Tyr535His) rs397517184
NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006031.5(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006063.2(KLHL41):c.641delA (p.Asn214Thrfs) rs730882235
NM_006420.2(ARFGEF2):c.656dupC (p.Val220Cysfs) rs730882200
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006567.4(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006578.3(GNB5):c.242C>T (p.Ser81Leu) rs761399728
NM_006579.2(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006623.3(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006876.2(B4GAT1):c.821_822insTT (p.Glu274Aspfs) rs730882237
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_012434.4(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_014000.2(VCL):c.2924G>A (p.Arg975Gln) rs767325003
NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014714.3(IFT140):c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) rs746697405
NM_015046.6(SETX):c.5222dup (p.Asp1742Argfs) rs730882209
NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.4(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015202.3(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) rs730882245
NM_015340.3(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015426.4(POC1A):c.241C>T (p.Arg81Ter) rs397514487
NM_015509.3(NECAP1):c.142C>T (p.Arg48Ter) rs587777420
NM_015721.2(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016247.3(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_017777.3(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017780.3(CHD7):c.3613A>G (p.Ile1205Val) rs751726519
NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018849.2(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_019108.3(SMG9):c.520_521delCC (p.Pro174Argfs) rs869312741
NM_019108.3(SMG9):c.701+4A>G rs869312742
NM_019613.3(WDR45B):c.673C>T (p.Arg225Ter) rs786205510
NM_020194.5(MFF):c.190C>T (p.Gln64Ter) rs397514615
NM_020361.4(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214Thrfs) rs730882197
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020639.2(RIPK4):c.1884C>T (p.Ser628=) rs55812846
NM_020751.2(COG6):c.1167-24A>G rs730882236
NM_020812.3(DOCK6):c.1362_1365delAACT (p.Thr455Serfs) rs730882238
NM_020919.3(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022786.2(ARV1):c.565G>A (p.Gly189Arg) rs730882241
NM_023073.3(CPLANE1):c.7988_7989delGA (p.Gly2663Alafs) rs730882217
NM_024596.4(MCPH1):c.2453-1G>C rs587783739
NM_024685.3(BBS10):c.959_962delGTTA (p.Ser320Ilefs) rs758522600
NM_024790.6(CSPP1):c.2244_2247delAAGA (p.Glu750Lysfs) rs587777145
NM_025000.3(DCAF17):c.322-14C>T rs192861143
NM_025137.3(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032504.1(UNC80):c.565G>A (p.Val189Met) rs864321623
NM_032578.3(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032806.5(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_033115.4(TBCK):c.1708+1G>A rs374319146
NM_052990.2(IFT122):c.2042+2T>C rs786205567
NM_138422.3(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138425.3(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_144508.4(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_153704.5(TMEM67):c.1413-2A>G rs786205608
NM_173630.3(RTTN):c.1732G>C (p.Ala578Pro) rs775277800
NM_173630.3(RTTN):c.2885+8A>G rs864321620
NM_173630.3(RTTN):c.3190A>C (p.Lys1064Gln) rs864321621
NM_173630.3(RTTN):c.5750A>G (p.Asp1917Gly) rs780270096
NM_178170.2(NEK8):c.1401G>A (p.Trp467Ter) rs762826555
NM_178526.4(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_183075.2(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_194279.3(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198428.2(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198576.3(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.3(AGRN):c.3516+10G>C rs76264143
NM_206933.2(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_213655.4(WNK1):c.2152C>T (p.Arg718Cys) rs786205473
Single allele rs1556038952

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.