ClinVar Miner

Variants studied for Very long chain acyl-CoA dehydrogenase deficiency

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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 not provided total
328 403 658 742 40 2 1808

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACADVL 310 381 598 686 32 2 1662
ACADVL, LOC130060113 11 11 25 42 4 0 79
ACADVL, DLG4 3 7 31 14 4 0 57
ACADVL, DVL2 2 4 0 0 0 0 4
ACADL 0 0 3 0 0 0 3
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf100, C17orf49, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 1
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BCL6B, C17orf49, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 273 150 368 688 30 0 1509
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 113 22 200 2 15 0 352
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 36 109 46 9 14 0 214
Counsyl 2 72 62 46 1 0 183
Baylor Genetics 70 100 3 1 0 0 174
Natera, Inc. 31 11 77 15 11 0 145
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 30 15 44 13 12 0 114
Illumina Laboratory Services, Illumina 4 2 57 3 9 0 75
Revvity Omics, Revvity 17 14 23 0 0 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 20 0 0 0 0 51
Myriad Genetics, Inc. 3 18 10 0 0 0 31
Fulgent Genetics, Fulgent Genetics 11 2 12 3 2 0 30
Genome-Nilou Lab 2 2 12 1 4 0 21
OMIM 12 0 0 0 0 0 12
Mendelics 5 2 2 0 1 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 3 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 3 1 0 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 1 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
3billion 0 1 1 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
NxGen MDx 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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