ClinVar Miner

Variants in gene ABCD1

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 total
160 96 236 129 58 606

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Adrenoleukodystrophy 138 71 184 104 50 510
not provided 46 28 51 20 9 146
not specified 4 1 16 8 14 43
History of neurodevelopmental disorder 1 1 2 11 11 26
none provided 5 2 0 0 4 11
Inborn genetic diseases 0 0 2 0 0 2
Primary adrenocortical insufficiency 2 0 0 0 0 2
X-linked spondyloepimetaphyseal dysplasia 2 0 0 0 0 2
Encephalitis; Episodic vomiting; Episodic fever; Myocarditis 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 1
Spastic gait; Spastic paraplegia 0 1 0 0 0 1
X-linked cerebral adrenoleukodystrophy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 103 27 118 97 37 382
Illumina Clinical Services Laboratory,Illumina 1 1 39 13 18 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 30 7 15 0 7 59
GeneDx 6 9 13 4 3 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 12 3 6 3 8 32
Johns Hopkins Genomics, Johns Hopkins University 15 9 6 0 0 30
Ambry Genetics 1 1 4 11 11 28
OMIM 26 0 0 0 0 26
Athena Diagnostics Inc 5 5 11 0 5 26
Natera, Inc. 0 0 7 7 6 20
CeGaT Praxis fuer Humangenetik Tuebingen 4 3 13 0 0 20
Integrated Genetics/Laboratory Corporation of America 6 5 6 1 0 18
Mendelics 6 4 1 3 3 17
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 11 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 2 1 4 2 5 14
Institute of Human Genetics, University of Leipzig Medical Center 8 5 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 3 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 2 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 4 1 0 7
Baylor Genetics 1 0 4 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 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 2 2 4
PreventionGenetics, PreventionGenetics 0 0 0 0 4 4
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 4 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
Counsyl 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Kangwon National University Hospital 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1

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