ClinVar Miner

Variants from 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: Collection method of the submission from 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 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
209 88 3 69 4 12 30 101

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 pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 2 48 11 1 1 6 2 6 2
likely pathogenic 19 0 7 2 0 1 0 0 0
uncertain significance 6 4 1 0 0 0 0 0 0
likely benign 0 1 4 0 2 0 0 0 0

Submitter to submitter summary #

Total submitters: 72
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 94 0 16 1 0 7 24
OMIM 0 62 0 10 0 8 4 22
Invitae 0 76 0 6 3 0 9 18
Ambry Genetics 0 47 0 8 0 0 5 13
Counsyl 0 27 0 11 0 0 1 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 34 0 7 1 0 2 10
PharmGKB 0 0 0 0 0 7 0 7
Illumina Clinical Services Laboratory,Illumina 0 14 0 3 0 0 5 7
Integrated Genetics/Laboratory Corporation of America 0 41 0 5 0 0 1 6
Genetic Services Laboratory, University of Chicago 0 24 0 4 1 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 28 0 2 0 0 3 5
Athena Diagnostics Inc 0 12 0 2 1 0 1 4
Fulgent Genetics 0 30 0 3 1 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 16 0 3 0 0 1 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 3 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 20 0 2 0 0 1 3
GeneReviews 0 15 2 1 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 5 0 2 0 0 1 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 7 0 2 0 0 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 10 0 2 0 0 1 3
Color 0 18 0 2 0 0 1 3
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 1 0 0 1 2
Mendelics 0 10 0 1 0 0 1 2
Sharing Clinical Reports Project (SCRP) 0 8 0 2 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 0 0 2 0 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 1 0 2 0 0 0 2
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 2 0 0 0 2
Robarts Research Institute,Western University 0 1 0 2 0 0 0 2
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 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 12 0 1 0 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
PreventionGenetics 0 4 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 7 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 3 0 1 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 4 0 1 0 0 0 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Blueprint Genetics, 0 4 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 1 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 5 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 7 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 3 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 5 0 1 0 0 0 1
GeneKor MSA 0 4 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 2 0 0 0 0 1 1
Diagnostic Laboratory,Strasbourg University Hospital 0 1 0 0 0 0 1 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 1 0 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 9 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 6 0 1 0 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 2 0 1 0 0 0 1
Iberoamerican FH Network 0 1 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 9 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 7 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 6 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 0 0 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 5 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000308.3(CTSA):c.105_108delGCTGinsC (p.Leu37del) rs886039898
NM_000314.6(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs) rs587780024
NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) rs387906360
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000520.5(HEXA):c.459+5G>A rs762060470
NM_000520.5(HEXA):c.986+3A>G rs200926928
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000806.5(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001135659.2(NRXN1):c.1405C>T (p.Pro469Ser) rs78540316
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001288739.1(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_001317040.1(GLB1):c.745C>T (p.Arg249Cys) rs72555360
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001396.3(DYRK1A):c.1639C>T (p.Gln547Ter) rs869312708
NM_001429.3(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001943.4(DSG2):c.2955delT (p.Val986Trpfs) rs1064794709
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_002109.5(HARS):c.410G>A (p.Arg137Gln) rs191391414
NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.3(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003406.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004519.3(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) rs193922673
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_005159.4(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005188.3(CBL):c.1096-4_1096-1delAAAG rs397517077
NM_005402.3(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532Argfs) rs869312704
NM_006772.2(SYNGAP1):c.3583-6G>A rs869312674
NM_006912.5(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) rs80357596
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_013275.5(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu) rs397509426
NM_014191.3(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_016111.3(TELO2):c.2159A>T (p.Asp720Val) rs878853271
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016222.3(DDX41):c.415_418dup (p.Asp140Glyfs) rs762890562
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020822.2(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.2(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_021007.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_024408.3(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_025137.3(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_030813.5(CLPB):c.1222A>G (p.Arg408Gly) rs144078282
NM_032634.3(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_153717.2(EVC):c.2782+1G>T rs1007534611

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