ClinVar Miner

Variants in gene ABCD1

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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
364 277 559 584 112 4 1628

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adrenoleukodystrophy 329 214 382 545 106 4 1421
not provided 82 80 208 51 28 0 420
Inborn genetic diseases 9 14 45 32 13 0 113
not specified 4 0 48 21 14 0 84
ABCD1-related disorder 17 16 26 15 2 0 76
History of neurodevelopmental disorder 1 0 0 0 1 0 2
Primary adrenocortical insufficiency 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 2
X-linked cerebral adrenoleukodystrophy 0 1 1 0 0 0 2
X-linked spondyloepimetaphyseal dysplasia 2 0 0 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 1 0 0 0 0 0 1
Encephalitis; Episodic vomiting; Recurrent fever; Myocarditis 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Peroxisome biogenesis disorder 2B 0 0 1 0 0 0 1
Spastic gait; Spastic paraplegia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 291 103 267 505 90 0 1256
GeneDx 39 31 86 15 20 0 191
Revvity Omics, Revvity 32 33 86 0 0 0 151
Genome-Nilou Lab 30 22 32 14 31 0 129
Ambry Genetics 10 14 45 32 14 0 115
Natera, Inc. 4 1 37 42 7 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 15 36 14 1 0 84
PreventionGenetics, part of Exact Sciences 17 16 26 15 6 0 80
Illumina Laboratory Services, Illumina 1 2 38 13 18 0 72
CeGaT Center for Human Genetics Tuebingen 14 9 19 26 2 0 70
Eurofins Ntd Llc (ga) 30 7 15 0 7 0 59
Johns Hopkins Genomics, Johns Hopkins University 16 12 8 0 0 0 36
Athena Diagnostics 8 6 16 0 5 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 14 3 6 3 8 0 34
Baylor Genetics 12 16 5 0 0 0 33
Mendelics 9 7 6 3 3 0 28
Institute of Human Genetics, University of Leipzig Medical Center 14 11 2 0 0 0 27
OMIM 26 0 0 0 0 0 26
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 18 1 0 0 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 16 0 23
Mayo Clinic Laboratories, Mayo Clinic 3 1 9 2 5 0 20
3billion 5 7 7 0 0 0 19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 1 7 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 4 0 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 5 6 2 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 1 6 1 1 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 6 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 7 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 2 3 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 2 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 4 1 0 0 7
Myriad Genetics, Inc. 0 6 1 0 0 0 7
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 3 3 0 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 0 3 3 0 6
MGZ Medical Genetics Center 0 3 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 2 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 0 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 5 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 2 2 0 4
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 0 2
Counsyl 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Raymond Lab, University of Cambridge 0 1 0 0 0 0 1
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Oleksyk Lab, Oakland University 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
GLIA-CTN Genomics Core 0 1 0 0 0 0 1

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