ClinVar Miner

Variants from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues: Collection method of the submission from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues:
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
278 66 1 21 15 1 22 53

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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 1 19 6 1 1 1 1
likely pathogenic 2 0 9 0 0 0 0
uncertain significance 6 2 0 15 4 0 0

Submitter to submitter summary #

Total submitters: 67
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 46 0 6 11 0 10 26
GeneDx 0 56 0 5 1 0 5 11
Ambry Genetics 0 21 0 4 5 0 2 11
Integrated Genetics/Laboratory Corporation of America 0 8 0 0 5 0 1 6
Blueprint Genetics 0 5 0 1 2 0 2 5
Color 0 4 0 0 5 0 0 5
OMIM 0 8 0 0 0 0 4 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 4 0 0 4 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 13 0 0 4 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 2 1 0 2 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 6 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 0 2 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 4 0 1 1 0 1 3
CSER _CC_NCGL, University of Washington 0 7 0 0 0 0 3 3
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 0 3 0 0 3
Athena Diagnostics Inc 0 3 0 0 1 0 1 2
Mendelics 0 1 0 0 1 0 1 2
Center for Medical Genetics Ghent,University of Ghent 0 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 2 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 1 0 1 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 2 0 0 0 2
Baylor Genetics 0 0 0 1 0 0 0 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 0 0 0 1 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
Counsyl 0 1 0 0 0 0 1 1
GeneReviews 0 1 1 0 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
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
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
University of British Columbia 0 0 0 1 0 0 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
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
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 14 0 0 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Institute of Human Genetics,University of Wuerzburg 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 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
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
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
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 0 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
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 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: 53
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) rs771919907
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001099404.1(SCN5A):c.4847_4849TCT[1] (p.Phe1617del) rs749697698
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) rs886041115
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_003620.3(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_172056.2(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_172056.2(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_172056.2(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.326T>C (p.Leu109Pro) rs794728512
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_198056.2(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.