ClinVar Miner

Variants from Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur: Collection method of the submission from Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur:
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
144 9 0 14 0 0 14 25

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
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur pathogenic likely pathogenic uncertain significance
pathogenic 0 1 2
likely pathogenic 13 0 12

Submitter to submitter summary #

Total submitters: 56
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 2 0 5 0 0 4 9
OMIM 0 0 0 6 0 0 0 6
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 4 0 0 0 4
Baylor Genetics 0 4 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 1 3
MGZ Medical Genetics Center 0 1 0 2 0 0 1 3
Mendelics 0 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 1 0 1 0 0 2 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 3 0 0 0 3
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 2 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 1 2
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 0 0 2 0 0 0 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
Paris Brain Institute, Inserm - ICM 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 1 2
3billion 0 1 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 0 1 0 0 0 1
Counsyl 0 0 0 0 0 0 1 1
Dasa 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 0 0 0 1 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 5 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
New York Genome Center 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn) rs573006534 0.00008
NM_004614.5(TK2):c.763A>G (p.Ile255Val) rs144419486 0.00005
NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr) rs769686385 0.00005
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) rs766242199 0.00001
NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys) rs1276839756 0.00001
NM_013328.4(PYCR2):c.752G>A (p.Arg251His) rs763294561 0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) rs760526545 0.00001
NC_012920.1(MT-TF):m.590A>G rs2068676854
NC_012920.1(MT-TP):m.15958A>T rs2068750239
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs) rs2536395943
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter) rs1359575116
NM_020320.5(RARS2):c.29C>T (p.Ala10Val) rs1776518694
NM_021830.5(TWNK):c.827C>T (p.Thr276Met) rs1415664013

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