ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City with conflicting interpretations

Location: Saudi Arabia — Primary collection method: clinical testing
Minimum review status of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City:
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
331 81 7 95 11 7 67 160

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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City pathogenic likely pathogenic uncertain significance likely benign benign affects drug response protective risk factor other
pathogenic 7 42 17 1 1 0 1 1 1 5
likely pathogenic 53 0 29 8 3 1 0 0 0 0
uncertain significance 11 6 0 9 1 0 0 0 0 0
likely benign 0 1 1 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 73
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
GeneDx 0 59 0 27 0 0 16 43
OMIM 0 61 0 25 0 6 7 38
Invitae 0 34 0 12 9 0 11 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 35 0 12 0 0 12 24
GeneReviews 0 10 7 7 0 0 1 15
Counsyl 0 21 0 6 1 0 7 14
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 8 0 13 0 0 1 14
Ambry Genetics 0 13 0 5 0 0 6 11
Baylor Genetics 0 16 0 9 0 0 1 10
Fulgent Genetics,Fulgent Genetics 0 12 0 7 0 0 3 10
Illumina Clinical Services Laboratory,Illumina 0 9 0 3 2 0 5 10
Genetic Services Laboratory, University of Chicago 0 11 0 5 0 0 4 9
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 1 0 0 5 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 12 0 3 0 0 2 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 3 0 0 2 5
SIB Swiss Institute of Bioinformatics 0 4 0 2 0 0 3 5
Integrated Genetics/Laboratory Corporation of America 0 13 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 2 4
Mendelics 0 9 0 2 0 0 1 3
Blueprint Genetics 0 2 0 1 0 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 3 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 12 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 4 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 8 0 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 2 0 0 0 2
Inherited Neuropathy Consortium 0 0 0 0 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 0 5 0 0 0 0 2 2
Athena Diagnostics Inc 0 8 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 0 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Klein lab,Ludwig-Maximilians-University 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 1 0 0 0 1
Geha Laboratory, Boston Childrens Hospital 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 5 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 0 1 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 1 0 0 0 1
Color 0 1 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Kasturba Medical College,Manipal University 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 1 0 1 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 0 0 0 1 1
Department of Human Genetics,University Hospital Magdeburg 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 0 0 0 0 1 1
Genesis Genome Database 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 160
Download table as spreadsheet
HGVS dbSNP
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000089.3(COL1A2):c.432+4_432+7delAGTA rs72656363
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000312.3(PROC):c.1163C>T (p.Ala388Val)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
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_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs)
NM_000426.3(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_001006657.2(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001037.5(SCN1B):c.449-2A>G
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001172435.2(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250
NM_001267550.1(TTN):c.32471-1G>A rs371725574
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001318245.2(MYO18B):c.6908C>A (p.Ser2303Ter) rs556752387
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001754.4(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)
NM_002187.2(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512
NM_003829.4(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_004092.4(ECHS1):c.88+5G>A rs761464256
NM_004369.3(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175
NM_004628.4(XPC):c.1872+1G>C rs1559374923
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) rs397507489
NM_005603.6(ATP8B1):c.923G>T (p.Gly308Val) rs111033609
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014639.4(TTC37):c.2275C>T (p.Leu759Phe)
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015125.4(CIC):c.4779dup (p.Pro1594fs)
NM_015185.3(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015636.3(EIF2B4):c.623G>A (p.Arg208Gln) rs113994028
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275
NM_018849.3(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020312.4(COQ9):c.184C>T (p.His62Tyr) rs757251412
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_022124.6(CDH23):c.1450-10G>A rs751220612
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734
NM_170589.5(KNL1):c.2893A>T (p.Met965Leu) rs145740834
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198129.3(LAMA3):c.1283G>C (p.Cys428Ser) rs180795245
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_213653.3(HJV):c.497A>G (p.His166Arg) rs1553769663

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