ClinVar Miner

Variants studied for Adrenoleukodystrophy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
365 242 447 566 105 6 1551

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCD1, PLXNB3 172 112 251 304 58 5 815
ABCD1 188 129 192 262 47 1 727
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, NSDHL, PDZD4, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF185, ZNF275 0 0 1 0 0 0 1
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, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BRCC3, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, F8, F8A1, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RAB39B, RENBP, RPL10, SLC10A3, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A, VBP1 0 0 1 0 0 0 1
ABCD1, BCAP31 0 1 1 0 0 0 1
ABCD1, BCAP31, SLC6A8 1 0 0 0 0 0 1
ABCD1, LOC130068831 0 0 1 0 0 0 1
ABCD1, LOC130068832, LOC130068833, LOC130068834 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 322 108 302 525 90 0 1347
Natera, Inc. 10 17 68 44 7 0 146
Genome-Nilou Lab 30 22 32 14 31 0 129
Illumina Laboratory Services, Illumina 1 2 38 11 17 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 19 1 1 0 0 51
Johns Hopkins Genomics, Johns Hopkins University 16 13 8 0 0 0 37
Baylor Genetics 12 16 5 0 0 0 33
Institute of Human Genetics, University of Leipzig Medical Center 15 11 2 0 0 0 28
3billion 7 9 10 0 0 0 26
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 19 1 0 0 0 26
OMIM 24 0 0 0 0 0 24
Mendelics 9 7 1 3 3 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 2 7 0 0 0 18
Neuberg Centre For Genomic Medicine, NCGM 5 6 2 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 1 6 1 1 0 12
Myriad Genetics, Inc. 2 8 0 0 0 0 10
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 6 3 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 4 2 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 4 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 2 0 0 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
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 2 0 0 0 0 4
MGZ Medical Genetics Center 0 3 1 0 0 0 4
Variantyx, Inc. 0 4 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 0 1 2 0 0 0 3
GLIA-CTN Genomics Core 0 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Counsyl 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Kangwon National University Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Oleksyk Lab, Oakland University 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 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
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Stanford Starfish Project, Stanford University 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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