ClinVar Miner

Variants studied for Wilson disease

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
614 686 1454 1254 71 17 3427

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 607 684 1391 1247 64 16 3342
ATP7B, TMEM272 0 0 42 3 5 0 50
ATP7B, LOC130009838 1 0 14 4 0 1 20
ALG11, ATP7B, UTP14C 4 0 0 0 0 0 4
SASH1 0 0 3 0 0 0 3
ALG11, ATP7B 1 1 1 0 1 0 2
CYP11A1 0 1 1 0 0 0 2
ALG11, ATP7B, CCDC70, DHRS12, FAM124A, INTS6, RNASEH2B, SERPINE3, UTP14C, WDFY2 0 0 1 0 0 0 1
ALG11, ATP7B, LOC130009838 0 0 0 0 1 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 0 1
ATP7B, LOC130009836, LOC130009837 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 106
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 483 124 475 1097 51 0 2230
All of Us Research Program, National Institutes of Health 114 59 607 297 14 0 1091
Color Diagnostics, LLC DBA Color Health 96 32 409 286 18 0 841
Natera, Inc. 160 142 232 40 23 0 597
Fulgent Genetics, Fulgent Genetics 78 138 209 28 2 0 455
Genome-Nilou Lab 156 64 83 51 20 0 374
Baylor Genetics 182 126 10 0 0 0 318
Counsyl 37 137 88 4 0 0 266
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 147 58 1 3 14 0 223
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 52 27 52 33 29 0 193
Illumina Laboratory Services, Illumina 8 4 143 10 22 0 187
Revvity Omics, Revvity 42 28 39 1 0 0 110
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 41 1 0 0 0 84
Myriad Genetics, Inc. 11 56 6 0 0 0 73
Lildballe Lab, Aarhus University Hospital 25 22 9 8 0 0 64
Neuberg Centre For Genomic Medicine, NCGM 19 19 19 0 0 0 57
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 12 11 1 2 0 38
3billion 23 5 6 0 0 0 34
Juno Genomics, Hangzhou Juno Genomics, Inc 20 8 6 0 0 0 34
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 31
Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences 0 11 15 0 0 0 26
Genetic Services Laboratory, University of Chicago 18 5 2 0 0 0 25
Mendelics 9 4 4 2 4 0 23
OMIM 23 0 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 5 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 7 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 5 0 0 0 0 12
First Genomix Gene Laboratory, Genetic Diagnostics Department 5 6 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 8 1 1 1 0 0 11
Variantyx, Inc. 6 5 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 4 0 0 0 10
Department of Human Genetics, Hannover Medical School 4 4 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
Arcensus 5 2 0 0 0 0 7
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 7 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 5 0 1 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 4 2 0 0 0 6
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 2 0 0 0 0 6
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 4 2 0 0 0 0 6
Institute of Genomics, University of Tartu 3 3 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 3 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 5 0 0 0 0 0 5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 3 0 0 0 0 4
CSER _CC_NCGL, University of Washington 1 0 3 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 1 0 0 0 4
Hadassah Hebrew University Medical Center 2 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 2 2 0 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 1 2 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 3
OLLIN Analises Genomicas, OLLIN 1 2 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 1 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 1 0 0 0 2
Otogenetics 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, National Children's Hospital, Hanoi, Vietnam 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Gill Bejerano Lab, Stanford University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
deCODE genetics, Amgen 1 0 0 0 0 0 1

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