ClinVar Miner

Variants in gene ATP7B

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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
118 183 258 93 62 12 588

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilson disease 108 175 182 43 33 11 468
not provided 33 16 73 10 13 1 137
not specified 3 0 31 57 55 0 127
Inborn genetic diseases 1 0 3 0 0 0 4
Epileptic encephalopathy 0 1 1 0 0 0 2
Hand tremor; Kayser-Fleischer ring 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 30 147 90 4 0 0 271
Integrated Genetics/Laboratory Corporation of America 59 18 57 10 22 0 165
GeneDx 19 10 13 43 19 0 104
Illumina Clinical Services Laboratory,Illumina 7 4 70 12 5 0 98
Invitae 34 6 14 19 22 0 95
Genetic Services Laboratory, University of Chicago 18 5 6 4 35 0 68
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 17 3 20 3 17 0 60
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 3 16 7 22 0 59
PreventionGenetics 0 0 0 15 21 0 36
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 7 1 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 2 2 0 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 0 6
Ambry Genetics 1 0 3 0 0 0 4
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 0 3
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
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 0 0 0 0 1 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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