ClinVar Miner

Variants from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center with conflicting interpretations

Location: Korea, Republic of — Primary collection method: reference population
Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
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
154 41 7 48 78 6 68 171

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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other
pathogenic 4 3 3 1 0 0 0 0
likely pathogenic 39 0 17 6 3 0 1 1
uncertain significance 35 11 3 65 45 1 3 0
likely benign 0 0 3 0 5 0 0 0
benign 1 0 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 61
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 12 0 24 1 5 25 54
Invitae 0 14 0 9 32 0 9 50
Illumina Clinical Services Laboratory,Illumina 0 17 0 7 29 0 14 50
GeneDx 0 24 0 9 30 0 7 46
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 5 0 6 22 0 5 33
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 17 0 8 18 1 5 32
Ambry Genetics 0 10 0 3 18 0 4 25
Integrated Genetics/Laboratory Corporation of America 0 14 0 8 10 0 5 23
GeneReviews 0 1 4 13 0 0 5 22
Counsyl 0 20 0 4 6 0 10 20
Color 0 5 0 2 15 0 2 19
PreventionGenetics 0 1 0 2 11 0 1 14
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 6 0 3 10
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 3 1 5 0 0 9
Athena Diagnostics Inc 0 5 0 1 5 0 2 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 3 3 0 2 8
Genetic Services Laboratory, University of Chicago 0 8 0 1 3 0 1 5
Mendelics 0 1 0 1 2 0 2 5
Fulgent Genetics 0 8 0 5 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 0 4 0 1 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 5 0 1 3 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 1 2 0 1 4
Sharing Clinical Reports Project (SCRP) 0 1 0 0 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 2 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 0 0 3 0 0 3
Blueprint Genetics, 0 2 0 0 1 0 1 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 2 0 0 2 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 1 0 0 2
ARUP Institute,ARUP Laboratories 0 0 0 0 1 0 1 2
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 0 0 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 1 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
Center for Human Genetics, Inc 0 0 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 0 0 0 1 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 1 0 0 1
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
GeneKor MSA 0 1 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 1 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 4 0 0 1 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 0 0 1 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel, 0 2 0 0 0 0 1 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 171
Download table as spreadsheet
HGVS dbSNP
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000055.3(BCHE):c.1177G>C (p.Gly393Arg) rs115129687
NM_000055.3(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000150.2(FUT6):c.739G>A (p.Glu247Lys) rs17855739
NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) rs145035679
NM_000151.3(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000153.3(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.3(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000220.4(KCNJ1):c.562C>T (p.Arg188Cys) rs138120505
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000263.3(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000290.3(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000303.2(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000311.3(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000312.3(PROC):c.577_579delAAG (p.Lys193del) rs199469469
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000339.2(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000350.2(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000403.3(GALE):c.715C>T (p.Arg239Trp) rs137853860
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_000444.5(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000475.4(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000477.6(ALB):c.725G>A (p.Arg242His) rs75002628
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000500.7(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000784.3(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.3(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000890.3(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001001547.2(CD36):c.1228_1239del12 (p.Ile410_Ile413del) rs550565800
NM_001005242.2(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001085.4(SERPINA3):c.1240A>G (p.Met414Val) rs116929575
NM_001100112.1(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001142564.1(CNGA1):c.398delG (p.Gly133Valfs) rs527236058
NM_001161520.1(COG5):c.1919T>C (p.Ile640Thr) rs142433421
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_001164675.1(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_001166292.1(PTCH2):c.1172_1173delCT (p.Ser391Terfs) rs56126236
NM_001167.3(XIAP):c.1048_1050delGAG (p.Glu350del) rs199683465
NM_001201397.1(EDNRB):c.245G>A (p.Arg82Gln) rs2070591
NM_001251987.1(TRDN):c.568dupA (p.Ile190Asnfs) rs1085307100
NM_001256317.1(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310
NM_001281723.2(BTD):c.647A>G (p.Asn216Ser) rs397514377
NM_001297.4(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001369.2(DNAH5):c.9365delT (p.Leu3122Terfs) rs1060501460
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) rs146466242
NM_002052.4(GATA4):c.1220C>A (p.Pro407Gln) rs115099192
NM_002055.4(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_002420.5(TRPM1):c.1870C>T (p.Arg624Cys) rs387906862
NM_002437.4(MPV17):c.451dupC (p.Leu151Profs) rs267607267
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002863.4(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) rs4369876
NM_003018.3(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) rs17028450
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004183.3(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004366.5(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171
NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala) rs200856070
NM_005476.5(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007294.3(BRCA1):c.3629dupA (p.Ser1211Valfs) rs886040154
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_012275.2(IL36RN):c.28C>T (p.Arg10Ter) rs397514630
NM_014080.4(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_014080.4(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_014251.2(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.2(SLC25A13):c.852_855delTATG (p.Met285Profs) rs80338720
NM_014324.5(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014795.3(ZEB2):c.298_300delAAC (p.Asn100del) rs587776610
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015506.2(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_016203.3(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_018368.4(LMBRD1):c.981-3dup rs202207965
NM_018451.4(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_020975.4(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.4(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025216.2(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_025216.2(WNT10A):c.637G>A (p.Gly213Ser) rs147680216
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_033028.4(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033629.4(TREX1):c.294dupA (p.Cys99Metfs) rs760594164
NM_052872.3(IL17F):c.254+1G>T rs117796773
NM_133497.3(KCNV2):c.80G>A (p.Arg27His) rs145731729
NM_139248.2(LIPH):c.736T>A (p.Cys246Ser) rs201249971
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) rs201835496
NM_172107.3(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_178857.5(RP1L1):c.324_325insT (p.Pro109Serfs) rs138816053
NM_194248.2(OTOF):c.4023+1G>A rs186810296
NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.2(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.2(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_207034.2(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207352.3(CYP4V2):c.367A>G (p.Met123Val) rs149684063

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