ClinVar Miner

Variants studied for disorder of copper metabolism

Included ClinVar conditions (7):
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
664 638 1756 1935 206 19 4576

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7B 521 532 1007 1083 60 15 2712
ATP7A 132 102 685 845 135 3 1770
ATP7B, TMEM272 0 0 44 2 5 0 51
ATP7B, LOC130009838 1 0 9 1 1 1 13
AP1S1, LOC126860125 1 2 0 1 1 0 5
ATP7A, PGK1 0 0 4 1 1 0 5
ALG11, ATP7B, UTP14C 4 0 0 0 0 0 4
ALG11, ATP7B 1 1 1 1 2 0 3
AP1S1 1 1 1 0 0 0 3
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
ATP7A, PGAM4 0 0 0 1 1 0 2
ALG11, ATP7B, CCDC70, DHRS12, FAM124A, INTS6, RNASEH2B, SERPINE3, UTP14C, WDFY2 0 0 1 0 0 0 1
ALG11, ATP7B, LOC130009841 0 0 1 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
ATP7B, LOC130009836, LOC130009837 1 0 0 0 0 0 1
EIF2AK3, LOC101928371 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 487 129 843 1818 186 0 3463
All of Us Research Program, National Institutes of Health 83 47 492 248 14 0 884
Natera, Inc. 73 11 222 72 34 0 412
Genome-Nilou Lab 156 64 85 51 23 0 379
Baylor Genetics 187 128 18 0 0 0 333
Counsyl 37 137 88 4 0 0 266
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 223 0 0 0 223
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 131 51 1 3 14 0 200
Illumina Laboratory Services, Illumina 8 4 152 11 22 0 197
Fulgent Genetics, Fulgent Genetics 44 30 80 32 4 0 190
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 41 19 36 23 27 0 146
Myriad Genetics, Inc. 8 110 7 0 0 0 125
Genetic Services Laboratory, University of Chicago 89 19 2 0 0 0 110
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 41 1 0 0 0 84
Revvity Omics, Revvity 29 17 17 0 0 0 63
Color Diagnostics, LLC DBA Color Health 5 2 24 15 15 0 61
Neuberg Centre For Genomic Medicine, NCGM 14 14 23 0 0 0 51
OMIM 37 0 0 0 0 0 37
Mendelics 10 6 5 3 7 0 31
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 31
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 9 9 1 1 0 27
Juno Genomics, Hangzhou Juno Genomics, Inc 14 7 5 0 0 0 26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 8 1 0 0 22
3billion 5 3 4 8 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 8 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 7 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 5 0 1 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 7 1 1 1 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 4 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
Centogene AG - the Rare Disease Company 5 0 2 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 1 1 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 0 0 0 7
Arcensus 5 2 0 0 0 0 7
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 6 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 2 0 0 0 6
Institute of Genomics, University of Tartu 3 3 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Hadassah Hebrew University Medical Center 1 4 0 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 5 0 0 0 0 0 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
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 2 2 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 1 0 0 0 4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 3 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
MGZ Medical Genetics Center 2 0 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
New York Genome Center 0 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 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
Suma Genomics 1 1 0 0 0 0 2
DASA 2 0 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 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, Sultan Qaboos University 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
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
deCODE genetics, Amgen 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
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1

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