ClinVar Miner

Variants from Reproductive Health Research and Development,BGI Genomics with conflicting interpretations

Location: China — Primary collection method: curation
Minimum review status of the submission from Reproductive Health Research and Development,BGI Genomics: Collection method of the submission from Reproductive Health Research and Development,BGI Genomics:
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
25 54 8 54 10 6 85 139

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
Reproductive Health Research and Development,BGI Genomics pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 8 27 7 2 1 1
likely pathogenic 21 0 9 0 0 0
uncertain significance 27 8 0 4 1 0
likely benign 1 1 0 0 5 0
benign 28 3 5 1 0 0
risk factor 5 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 54
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 55 0 18 0 4 42 64
Illumina Clinical Services Laboratory,Illumina 0 29 0 5 3 1 7 16
GeneReviews 0 10 8 1 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 20 0 7 0 1 0 8
Mendelics 0 19 0 2 4 0 2 8
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research 0 0 0 0 0 0 8 8
Fulgent Genetics,Fulgent Genetics 0 20 0 4 0 1 0 5
Baylor Genetics 0 17 0 2 0 0 2 4
Counsyl 0 3 0 2 0 0 2 4
Invitae 0 26 0 2 1 0 1 4
PXE International 0 1 0 4 0 0 0 4
Myriad Women's Health, Inc. 0 22 0 3 0 1 0 4
Genetic Services Laboratory, University of Chicago 0 7 0 2 0 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 3 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 1 0 0 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 2 0 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 1 0 2 3
Integrated Genetics/Laboratory Corporation of America 0 19 0 1 0 1 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 1 0 2
Genetics Research Lab, Taif University 0 0 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 12 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 1 2
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 5 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 5 0 0 1 0 0 1
Natera, Inc. 0 13 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Elahi Laboratory, University of Tehran 0 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 6 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 5 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 1 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1 0 1
Human Genetics - Radboudumc,Radboudumc 0 1 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Department of Hematology,303rd Hospital of the People's Liberation Army 0 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 0 1 0 0 0 1
MK Azim Lab,Mohammad Ali Jinnah University 0 0 0 0 0 0 1 1
Clinical Laboratory,Xuzhou Maternity and Child Health Care Hospital 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 139
Download table as spreadsheet
HGVS dbSNP
NC_000008.11:g.11573132C>T rs61199332
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000250.2(MPO):c.2031-2A>C rs35897051
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000451.3(SHOX):c.-507G>C rs111549748
NM_000451.3(SHOX):c.-512C>A rs113313554
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000506.5(F2):c.*97G>A rs1799963
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987
NM_000616.5(CD4):c.793C>T (p.Arg265Trp) rs28919570
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580
NM_001001547.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001061.6(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001142446.2(ANK1):c.127-39509T>C rs77173848
NM_001142446.2(ANK1):c.127-39554G>A rs183894680
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001171.5(ABCC6):c.346-6G>A rs55778939
NM_001171.5(ABCC6):c.3883-24G>A rs59513011
NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=) rs58668703
NM_001171.5(ABCC6):c.600+23C>T rs72664290
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239
NM_001298.3(CNGA3):c.101+1G>A rs147118493
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter) rs141784184
NM_002016.2(FLG):c.9947C>G rs149484917
NM_002052.5(GATA4):c.*1256A>T rs12458
NM_002052.5(GATA4):c.*852G>A rs804290
NM_002052.5(GATA4):c.1146+129C>T rs116052854
NM_002052.5(GATA4):c.1146+177C>T rs12156163
NM_002052.5(GATA4):c.1147-107A>G rs745379
NM_002052.5(GATA4):c.617-116T>C rs3735819
NM_002052.5(GATA4):c.617-64G>C rs10503425
NM_002052.5(GATA4):c.997+200G>A rs3729851
NM_002111.8(HTT):c.3785C>T (p.Thr1262Met) rs34315806
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003665.3(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004646.3(NPHS1):c.-475_-468delGAGAGAGA rs139954720
NM_004994.3(MMP9):c.2T>A (p.Met1Lys) rs121434556
NM_005084.4(PLA2G7):c.663+1G>A rs201899866
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) rs76863441
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) rs387906816
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006179.4(NTF4):c.616C>T (p.Arg206Trp) rs121918427
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_007180.3(TREH):c.90-9_106del rs527655595
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_015627.2(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297
NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) rs139548132
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803
NM_017890.4(VPS13B):c.9406-2A>T rs74485751
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755
NM_021939.3(FKBP10):c.917+53G>T rs141387386
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_030751.6(ZEB1):c.233A>C (p.Asn78Thr) rs80194531
NM_030751.6(ZEB1):c.2519A>C (p.Gln840Pro) rs118020901
NM_030964.4(SPRY4):c.910G>A (p.Val304Ile) rs142439525
NM_033419.5(PGAP3):c.*559C>T rs183208638
NM_139025.4(ADAMTS13):c.3541G>A (p.Gly1181Arg) rs192619276
NM_152336.4(AGBL1):c.3220C>T (p.Arg1074Ter) rs185919705
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) rs200857997
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305
NM_173170.1(IL36RN):c.115+6T>C rs148755083
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529

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.