ClinVar Miner

Variants in gene ABCD1

Minimum submission review status: Collection method:
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Gene type:
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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
81 43 104 37 31 266

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Adrenoleukodystrophy 59 24 53 22 21 173
not provided 35 19 43 3 6 101
not specified 1 0 11 6 12 30
History of neurodevelopmental disorder 1 0 4 9 11 25
Addison's disease 2 0 0 0 0 2
Encephalitis; Episodic vomiting; Episodic fever; Myocarditis 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Spastic gait; Spastic paraplegia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 6 31 4 12 81
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 30 7 15 0 7 59
Illumina Clinical Services Laboratory,Illumina 0 1 12 19 7 39
GeneDx 4 8 13 3 3 31
OMIM 26 0 0 0 0 26
Ambry Genetics 1 0 5 9 11 26
Athena Diagnostics Inc 4 2 10 0 4 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 0 4 1 4 14
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 4 2 5 14
Molecular Diagnostics Laboratory,M Health: University of Minnesota 4 9 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 3 3 3 1 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 9 0 0 10
Johns Hopkins Genomics,Johns Hopkins University 3 1 1 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 2 2 4
PreventionGenetics 0 0 0 0 4 4
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Counsyl 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1

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