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
99 61 127 69 54 364

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Adrenoleukodystrophy 78 39 76 23 14 220
not provided 38 22 45 37 41 167
not specified 4 1 13 8 15 41
History of neurodevelopmental disorder 1 0 3 10 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
Intellectual disability 0 1 0 0 0 1
Spastic gait; Spastic paraplegia 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 12 49 36 37 180
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 30 7 15 0 7 59
Illumina Clinical Services Laboratory,Illumina 0 1 12 19 7 39
GeneDx 6 9 13 4 3 35
OMIM 26 0 0 0 0 26
Ambry Genetics 1 0 4 10 11 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 1 6 3 7 25
Athena Diagnostics Inc 5 3 10 0 5 23
Johns Hopkins Genomics,Johns Hopkins University 12 5 6 0 0 23
Mendelics 6 4 1 3 3 17
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 4 2 5 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 11 0 0 13
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 2 2 4
PreventionGenetics,PreventionGenetics 0 0 0 0 4 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
GeneReviews 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, FRIGE's 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
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

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