ClinVar Miner

Variants from Institute of Human Genetics, University Hospital of Duesseldorf with conflicting interpretations

Location: Germany  Primary collection method: not provided
Minimum review status of the submission from Institute of Human Genetics, University Hospital of Duesseldorf: Collection method of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:
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
139 36 0 26 9 2 11 43

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, University Hospital of Duesseldorf pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance risk factor
pathogenic 0 18 4 1 0 0 1
likely pathogenic 8 0 3 0 0 1 0
uncertain significance 3 2 0 8 3 0 0

Submitter to submitter summary #

Total submitters: 53
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
OMIM 0 23 0 5 0 1 3 9
Invitae 0 28 0 2 5 1 1 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 13 0 5 0 0 1 6
Genomics England Pilot Project, Genomics England 0 2 0 5 0 0 0 5
MGZ Medical Genetics Center 0 3 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 13 0 3 1 0 0 4
LDLR-LOVD, British Heart Foundation 0 0 0 4 0 0 0 4
Robarts Research Institute, Western University 0 0 0 4 0 0 0 4
Counsyl 0 2 0 3 0 0 0 3
Mendelics 0 5 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 7 0 0 2 0 1 3
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 2 0 0 1 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 1 0 3 0 0 0 3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 1 3
Natera, Inc. 0 6 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 0 2
Myriad Genetics, Inc. 0 3 0 1 1 0 0 2
Genome-Nilou Lab 0 3 0 0 1 0 1 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Baylor Genetics 0 10 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 3 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 11 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 0 4 0 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 1 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 15 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 0 0 1
3billion 0 3 0 0 0 0 1 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_006715.4(MAN2C1):c.2303G>A (p.Arg768Gln) rs62029711 0.00344
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) rs148642312

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