ClinVar Miner

Variants in gene ATP7B

See also:
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
236 240 494 323 97 15 1132

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilson disease 229 228 413 268 53 12 982
not provided 46 24 111 62 27 3 253
not specified 3 0 48 66 55 0 153
Inborn genetic diseases 1 1 2 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
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 174 32 118 251 30 0 605
Counsyl 37 141 91 4 0 0 273
Integrated Genetics/Laboratory Corporation of America 81 27 60 24 22 0 214
Illumina Clinical Services Laboratory,Illumina 7 4 153 10 21 0 195
Natera, Inc. 37 1 88 14 19 0 159
GeneDx 20 12 13 53 42 0 140
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 34 16 29 21 31 0 131
CeGaT Praxis fuer Humangenetik Tuebingen 17 7 52 15 0 0 91
Genetic Services Laboratory, University of Chicago 19 5 5 3 36 0 68
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 17 3 20 3 17 0 60
PreventionGenetics, PreventionGenetics 0 0 0 15 21 0 36
OMIM 23 0 0 0 0 0 23
Baylor Genetics 11 4 4 0 0 0 19
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
Fulgent Genetics,Fulgent Genetics 5 5 2 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 3 5 0 0 0 12
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 10 0 0 0 10
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 1 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 6 6
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Ambry Genetics 1 1 2 0 0 0 4
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Hadassah Hebrew University Medical Center 1 2 0 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
Mayo Clinic 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 2 0 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
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
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
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 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
Nilou-Genome Lab 0 0 1 0 0 0 1

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