ClinVar Miner

Variants from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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
532 165 7 84 5 4 32 120

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 7 52 9 2 1 1 1 2 1
likely pathogenic 32 0 16 1 0 0 0 1 0
uncertain significance 6 3 0 1 1 1 1 0 1
likely benign 0 0 4 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 111
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
Invitae 0 72 0 9 3 0 11 23
OMIM 0 86 0 16 0 3 1 20
Counsyl 0 25 0 14 0 0 3 17
Illumina Clinical Services Laboratory,Illumina 0 18 0 4 2 0 8 13
Baylor Genetics 0 28 0 9 0 0 2 10
GeneReviews 0 22 7 3 0 0 0 10
Mendelics 0 18 0 5 0 0 2 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 1 0 0 5 6
SIB Swiss Institute of Bioinformatics 0 0 0 6 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 30 0 5 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 12 0 5 0 0 1 5
Center for Medical Genetics Ghent,University of Ghent 0 0 0 4 0 0 1 4
Robarts Research Institute,Western University 0 1 0 3 0 0 1 4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 21 0 2 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 16 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 19 0 3 0 0 0 3
LDLR-LOVD, British Heart Foundation 0 2 0 3 0 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 2 0 0 1 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 2 0 0 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 1 0 0 2 3
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 2 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 5 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 1 0 0 1 2
GeneDx 0 1 0 2 1 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 10 0 1 0 0 1 2
Natera, Inc. 0 9 0 2 0 0 0 2
Sharing Clinical Reports Project (SCRP) 0 22 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 25 0 1 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 810 5 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 1 1 0 1 2
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 2 2
Undiagnosed Diseases Network,NIH 0 4 0 2 0 0 1 2
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 14 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 4 0 2 0 0 0 2
Myriad Women's Health, Inc. 0 17 0 2 0 0 0 2
Athena Diagnostics Inc 0 3 0 0 1 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 3 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 1 1 1 1
American College of Medical Genetics and Genomics (ACMG) 0 4 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 4 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Blueprint Genetics 0 2 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 6 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 11 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 22 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 8 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Color Health, Inc 0 4 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 4 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 22 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 3 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 1 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 4 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 10 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 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 11 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 0 0 0 1 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 4 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 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 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 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 1 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 120
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000113.3(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895
NM_000303.3(PMM2):c.66+1G>T rs937726878
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001042425.2(TFAP2A):c.751A>G (p.Arg251Gly) rs121909574
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509
NM_006180.4(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_019026.4(TMCO1):c.340C>T (p.Arg114Ter) rs765824628
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) rs199473457
NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) rs199473283
Single allele

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