ClinVar Miner

Variants studied for Wilson disease

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

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
505 499 1056 1088 68 16 2740

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 499 499 1001 1084 60 15 2668
ATP7B, TMEM272 0 0 44 2 5 0 51
ATP7B, LOC130009838 1 0 8 1 1 1 12
ALG11, ATP7B, UTP14C 4 0 0 0 0 0 4
ALG11, ATP7B 0 0 1 1 2 0 2
ALG11, ATP7B, CCDC70, DHRS12, FAM124A, INTS6, RNASEH2B, SERPINE3, UTP14C, WDFY2 0 0 1 0 0 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: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 426 116 449 999 51 0 2041
All of Us Research Program, National Institutes of Health 83 47 493 248 14 0 885
Genome-Nilou Lab 156 63 83 52 20 0 374
Natera, Inc. 69 11 153 37 23 0 293
Baylor Genetics 164 99 9 0 0 0 272
Counsyl 37 137 88 4 0 0 266
Illumina Laboratory Services, Illumina 7 4 153 11 22 0 197
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 121 44 1 3 14 0 183
Fulgent Genetics, Fulgent Genetics 44 30 76 27 2 0 179
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 41 19 37 23 27 0 147
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 41 1 0 0 0 84
Myriad Genetics, Inc. 8 49 7 0 0 0 64
Revvity Omics, Revvity 29 17 17 0 0 0 63
Color Diagnostics, LLC DBA Color Health 5 2 24 15 15 0 61
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 31
Neuberg Centre For Genomic Medicine, NCGM 9 7 10 0 0 0 26
Genetic Services Laboratory, University of Chicago 18 5 2 0 0 0 25
OMIM 23 0 0 0 0 0 23
Mendelics 9 4 4 2 4 0 23
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 8 5 1 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 7 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 4 0 0 0 10
3billion 5 2 3 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 0 0 0 7
Arcensus 5 2 0 0 0 0 7
Centogene AG - the Rare Disease Company 5 0 1 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 1 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
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 3 1 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 1 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 3 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Hadassah Hebrew University Medical Center 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
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 1 2 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 3
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
Suma Genomics 1 1 0 0 0 0 2
DASA 2 0 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Gill Bejerano Lab, Stanford University 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Credence Genomics 1 0 0 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1

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