ClinVar Miner

Variants from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University: Collection method of the submission from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University:
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
67 44 1 22 6 3 15 44

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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor
pathogenic 1 13 10 3 2 0 1 1 1 0
likely pathogenic 6 0 0 0 0 1 0 0 0 1
uncertain significance 2 2 0 4 3 0 0 0 0 0
likely benign 0 0 1 0 3 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 76
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
Invitae 0 8 0 5 5 0 5 14
GeneDx 0 8 0 6 1 0 5 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 6 0 6 1 0 2 8
OMIM 0 40 0 4 0 1 1 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 4 0 0 1 0 3 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 1 3
Ambry Genetics 0 4 0 0 1 0 2 3
Mendelics 0 0 0 0 1 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2 0 1 3
Baylor Genetics 0 0 0 1 0 0 1 2
Athena Diagnostics Inc 0 1 0 0 1 0 1 2
Counsyl 0 4 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 0 0 2 0 0 0 2
GeneReviews 0 8 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 0 2 0 0 0 2
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 1 2
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 0 0 2 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 1 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 0 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 0 1
Color 0 0 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 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 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 2 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 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000445.5(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.5(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) rs863223792
NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys) rs869312903
NM_001197104.1(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003482.3(KMT2D):c.11568_11570GCA[6] (p.Gln3863dup) rs748986705
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.3(KMT2D):c.5120_5121AC[2] (p.Arg1709fs) rs886043506
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810
NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016366.3(CABP2):c.637+1G>T rs149712664
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414
NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_198056.2(SCN5A):c.5360G>A (p.Ser1787Asn) rs199473316
NM_198056.2(SCN5A):c.5693G>A (p.Arg1898His) rs370694515
Single allele

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