ClinVar Miner

Variants studied for Adrenoleukodystrophy

Coded as:
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
80 39 76 23 14 222

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCD1 78 39 76 23 14 220
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 48 12 49 1 2 112
Illumina Clinical Services Laboratory,Illumina 0 1 12 19 7 39
OMIM 24 0 0 0 0 24
Johns Hopkins Genomics,Johns Hopkins University 12 5 6 0 0 23
Mendelics 6 4 1 3 3 17
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 9 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 3 3 2 1 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
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
Counsyl 1 1 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
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
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

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