ClinVar Miner

Variants studied for Wilson disease

Included ClinVar conditions (1):
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
108 175 183 44 34 11 470

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 108 175 182 43 33 11 468
ALG11, ATP7B 0 0 1 1 1 0 2

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 30 147 90 4 0 0 271
Illumina Clinical Services Laboratory,Illumina 7 4 70 13 6 0 100
Integrated Genetics/Laboratory Corporation of America 59 18 4 3 15 0 99
Invitae 34 6 14 19 23 0 96
Genetic Services Laboratory, University of Chicago 18 5 3 0 0 0 26
OMIM 23 0 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 2 5 7 0 15
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
CSER_CC_NCGL; University of Washington Medical Center 1 0 3 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
SingHealth Duke-NUS Institute of Precision Medicine 3 1 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 2 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
Molecular Biology of the Cell Laboratory,University of Mazandaran 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

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