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
125 178 213 29 19 12 490

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 125 178 212 28 18 12 488
ALG11, ATP7B 0 0 1 1 1 0 2

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 42 142 91 4 0 0 279
Invitae 59 13 48 3 1 0 124
Illumina Clinical Services Laboratory,Illumina 7 4 70 13 6 0 100
Integrated Genetics/Laboratory Corporation of America 58 19 4 3 15 0 99
Genetic Services Laboratory, University of Chicago 18 5 3 0 0 0 26
OMIM 23 0 0 0 0 0 23
Mendelics 5 3 3 2 3 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 2 5 7 0 15
Fulgent Genetics,Fulgent Genetics 5 5 2 0 0 0 12
SIB Swiss Institute of Bioinformatics 0 2 4 1 1 0 8
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 7 7
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
GenomeConnect, ClinGen 0 0 0 0 0 5 5
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
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,Institute of Human Genetics 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
Gill Bejerano Lab,Stanford University 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: 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
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

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