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
557 593 1217 1159 69 17 3043

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 550 592 1160 1155 61 16 2968
ATP7B, TMEM272 0 0 44 2 5 0 51
ATP7B, LOC130009838 1 0 9 1 1 1 13
ALG11, ATP7B, UTP14C 4 0 0 0 0 0 4
ALG11, ATP7B 1 1 1 1 2 0 3
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
SASH1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 463 118 460 1051 52 0 2144
All of Us Research Program, National Institutes of Health 114 59 607 297 14 0 1091
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
Natera, Inc. 69 11 153 37 23 0 293
Counsyl 37 137 88 4 0 0 266
Illumina Laboratory Services, Illumina 8 4 151 11 22 0 196
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 129 47 1 3 14 0 194
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 41 19 36 23 27 0 146
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
Neuberg Centre For Genomic Medicine, NCGM 17 17 19 0 0 0 53
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 31
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 9 8 1 1 0 28
Juno Genomics, Hangzhou Juno Genomics, Inc 14 7 5 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 7 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 1 4 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 5 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 4 0 0 0 10
3billion, Medical Genetics 5 2 3 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 6 1 0 1 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
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
Arcensus 5 2 0 0 0 0 7
Centogene AG - the Rare Disease Company 5 0 1 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 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
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
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
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 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
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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 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
Department of Human Genetics, Hannover Medical School 0 1 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1

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