ClinVar Miner

Variants from Cavalleri Lab, Royal College of Surgeons in Ireland with conflicting interpretations

Location: Ireland  Primary collection method: research
Minimum review status of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland: Collection method of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland:
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
116 43 1 28 0 0 15 40

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
Cavalleri Lab, Royal College of Surgeons in Ireland pathogenic likely pathogenic uncertain significance
pathogenic 1 11 2
likely pathogenic 17 0 2
uncertain significance 6 11 0

Submitter to submitter summary #

Total submitters: 60
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
Fulgent Genetics, Fulgent Genetics 0 31 0 6 0 0 6 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 13 0 7 0 0 4 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 3 0 0 5 8
3billion 0 5 0 4 0 0 2 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 14 0 2 0 0 4 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 1 0 0 3 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 1 0 0 3 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 3 0 0 1 4
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 4 0 0 0 4
Labcorp Genetics (formerly Invitae), Labcorp 0 8 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 5 0 0 0 0 3 3
OMIM 0 7 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 1 0 0 1 2
MGZ Medical Genetics Center 0 4 0 2 0 0 0 2
New York Genome Center 0 2 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 1 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 3 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 0 1
Dasa 0 1 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 3 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 1 0 0 0 1
Genatak 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 3 0 0 0 0 1 1
Mendelics 0 5 0 0 0 0 1 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 4 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 0 0 1 0 0 0 1
Suma Genomics 0 0 0 1 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 6 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
Single allele

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