ClinVar Miner

Variants from Suma Genomics with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Suma Genomics: Collection method of the submission from Suma Genomics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
206 89 1 74 0 0 31 100

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
Suma Genomics pathogenic likely pathogenic uncertain significance
pathogenic 0 36 8
likely pathogenic 38 0 8
uncertain significance 8 13 1

Submitter to submitter summary #

Total submitters: 92
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
Labcorp Genetics (formerly Invitae), Labcorp 0 41 0 15 0 0 7 22
Baylor Genetics 0 23 0 13 0 0 5 18
OMIM 0 41 0 13 0 0 5 18
Neuberg Centre For Genomic Medicine, NCGM 0 30 0 9 0 0 6 15
Natera, Inc. 0 16 0 8 0 0 5 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 8 0 0 5 13
Fulgent Genetics, Fulgent Genetics 0 18 0 9 0 0 2 11
3billion 0 34 0 4 0 0 6 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 20 0 8 0 0 2 10
Counsyl 0 6 0 6 0 0 3 9
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 5 0 0 4 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 14 0 4 0 0 4 8
Revvity Omics, Revvity 0 19 0 4 0 0 2 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 3 0 0 2 5
Institute of Human Genetics Munich, TUM University Hospital 0 8 0 4 0 0 1 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 22 0 2 0 0 3 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 11 0 2 0 0 2 4
Genome-Nilou Lab 0 14 0 1 0 0 3 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 3 0 0 1 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 7 0 2 0 0 2 4
Mendelics 0 11 0 0 0 0 4 4
Variantyx, Inc. 0 5 0 1 0 0 3 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 3 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 10 0 1 0 0 2 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 10 0 2 0 0 1 3
Lifecell International Pvt. Ltd 0 9 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 1 0 0 1 2
Dubai Health Genomic Medicine Center, Dubai Health 0 4 0 1 0 0 1 2
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 10 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 5 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 6 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2 2
New York Genome Center 0 2 0 1 0 0 1 2
OLLIN Analises Genomicas, OLLIN 0 0 0 0 0 0 2 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 1 2
SIB Swiss Institute of Bioinformatics 0 2 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 0 0 0 1 1
All of Us Research Program, National Institutes of Health 0 3 0 0 0 0 1 1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh 0 0 0 0 0 0 1 1
Ambry Genetics 0 3 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 8 0 0 0 0 1 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 0 0 0 1 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 0 0 0 1 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 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT), Hospital de Niños Dr. Ricardo Gutiérrez 0 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 2 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Dasa 0 5 0 0 0 0 1 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 4 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 0 0 0 1 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 0 0 0 1 1
Istanbul Faculty of Medicine, Istanbul University 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 9 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Myofin, Folkhalsan Research Center 0 0 1 0 0 0 0 1
Myriad Genetics, Inc. 0 10 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 1 0 0 0 1
RettBASE 0 5 0 0 0 0 1 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00021
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00017
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00008
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00002
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000163.5(GHR):c.723C>T (p.Gly241=) rs1260870046 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) rs587776919 0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) rs775014444 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582 0.00001
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000306.4(POU1F1):c.143-73T>G rs2106940853
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) rs104893755
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His) rs137852870
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.7322-2A>G rs2151574219
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) rs104895228
NM_001070.5(TUBG1):c.1022G>A (p.Arg341Gln) rs1555631467
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003632.3(CNTNAP1):c.2198A>G (p.Asp733Gly) rs2143663891
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_004629.2(FANCG):c.619del (p.Leu207fs) rs2490404478
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His) rs2504175858
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) rs2108658339
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) rs2108670592
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter) rs750900568
NM_016816.4(OAS1):c.326G>A (p.Cys109Tyr) rs1555223154
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_032382.5(COG8):c.1583-1G>A rs1287837570
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del) rs886041062
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930

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