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
190 211 330 109 50 12 744

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 187 211 329 108 49 12 739
ALG11, ATP7B, UTP14C 3 0 0 0 0 0 3
ALG11, ATP7B 0 0 1 1 1 0 2

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 126 21 98 86 31 0 362
Counsyl 37 141 91 4 0 0 273
Illumina Clinical Services Laboratory,Illumina 7 4 153 11 22 0 197
Integrated Genetics/Laboratory Corporation of America 73 28 3 3 15 0 122
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 20 8 8 7 17 0 60
Genetic Services Laboratory,University of Chicago 19 5 2 0 0 0 26
OMIM 23 0 0 0 0 0 23
Myriad Women's Health, Inc. 5 14 0 0 0 0 19
Mendelics 5 3 3 2 3 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 2 5 7 0 15
Baylor Genetics 10 3 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 5 5 2 0 0 0 12
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 6 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Centogene AG - the Rare Disease Company 4 0 0 0 0 0 4
CSER _CC_NCGL, University of Washington 1 0 3 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
GeneReviews 3 0 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 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, Oman 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
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
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 1

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