ClinVar Miner

Variants from Institute of Human Genetics, Heidelberg University with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg 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 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
91 51 0 43 0 3 16 52

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
Institute of Human Genetics, Heidelberg University pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor
pathogenic 0 16 3 1 1 1 1
likely pathogenic 27 0 11 2 0 0 1

Submitter to submitter summary #

Total submitters: 72
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 16 0 13 0 1 3 17
OMIM 0 21 0 9 0 2 1 12
Counsyl 0 3 0 3 0 0 3 6
Baylor Genetics 0 16 0 4 0 0 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 14 0 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 10 0 3 0 0 2 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 4 0 0 1 5
MGZ Medical Genetics Center 0 13 0 2 0 0 2 4
Mendelics 0 3 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 17 0 3 0 0 1 4
Revvity Omics, Revvity 0 5 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 6 0 3 0 0 0 3
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 2 3
3billion 0 10 0 3 0 0 0 3
GeneDx 0 0 0 1 0 0 1 2
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 1 2
Illumina Laboratory Services, Illumina 0 5 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 1 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 1 0 1 0 0 1 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 2 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 9 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 0 2 0 0 0 2
Myriad Genetics, Inc. 0 4 0 1 0 0 1 2
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 0 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 4 0 1 0 0 1 2
Athena Diagnostics 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 0 1 0 0 0 1
Natera, Inc. 0 4 0 0 0 0 1 1
Sharing Clinical Reports Project (SCRP) 0 1 0 1 0 0 0 1
GeneReviews 0 14 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 2 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 2 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 3 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 0 0 0 1 1
New York Genome Center 0 2 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 0 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 1 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 0 1 0 0 0 1
GENinCode PLC 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00009
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00004
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_000038.6(APC):c.531+1482A>G rs2532437222
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr) rs2517082005
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs) rs1574100501
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
Single allele

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