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
139 194 301 190 90 12 756

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 132 182 218 34 22 11 506
not provided 34 21 95 133 49 1 299
not specified 3 0 28 66 56 0 135
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: 48
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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 48 115 29 0 264
Integrated Genetics/Laboratory Corporation of America 58 19 44 23 22 0 165
GeneDx 20 12 13 53 41 0 139
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 27 11 24 13 25 0 100
Illumina Clinical Services Laboratory,Illumina 7 4 70 12 5 0 98
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 42 7 0 0 55
PreventionGenetics,PreventionGenetics 0 0 0 15 21 0 36
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
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 2 4 1 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Ambry Genetics 1 0 3 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
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
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
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, FRIGE's 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
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: 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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