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
304 243 498 555 121 4 1483

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adrenoleukodystrophy 274 195 350 529 106 4 1309
not provided 73 69 178 40 22 0 358
Inborn genetic diseases 9 13 30 26 13 0 91
not specified 4 0 30 10 24 0 65
ABCD1-related condition 8 4 10 0 0 0 22
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
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: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 238 96 246 489 90 0 1159
Revvity Omics, Revvity Omics 32 33 87 0 0 0 152
GeneDx 30 22 49 15 20 0 136
Genome-Nilou Lab 30 22 32 14 31 0 129
Ambry Genetics 10 13 30 26 14 0 93
Natera, Inc. 4 1 37 42 7 0 91
Illumina Laboratory Services, Illumina 1 2 38 13 18 0 72
Eurofins Ntd Llc (ga) 30 7 15 0 7 0 59
CeGaT Center for Human Genetics Tuebingen 8 6 20 21 1 0 56
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 11 17 3 0 0 41
Johns Hopkins Genomics, Johns Hopkins University 16 12 8 0 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 14 3 7 3 8 0 35
Athena Diagnostics Inc 7 6 14 0 5 0 32
Mendelics 9 7 6 3 3 0 28
Baylor Genetics 9 13 5 0 0 0 27
OMIM 26 0 0 0 0 0 26
Preventiongenetics, part of Exact Sciences 8 4 10 0 4 0 26
Institute of Human Genetics, University of Leipzig Medical Center 13 10 2 0 0 0 25
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 17 0 0 0 0 22
Mayo Clinic Laboratories, Mayo Clinic 3 1 8 2 5 0 19
3billion 5 3 6 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 3 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 1 6 1 1 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 10 0 10
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 3 1 0 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
Clinical Genetics, Academic Medical Center 0 0 0 3 3 0 6
MGZ Medical Genetics Center 0 3 2 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 2 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 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 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 Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 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 Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 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

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