ClinVar Miner

Variants studied for Very long chain acyl-CoA dehydrogenase deficiency

Coded as:
Minimum submission review status: Collection method:
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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
369 483 731 842 40 2 2039

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 344 455 670 778 32 2 1875
ACADVL, LOC130060113 13 14 28 49 4 0 92
ACADVL, DLG4 7 10 32 15 4 0 64
ACADVL, DVL2 2 4 0 0 0 0 4
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BACC1, BCL6B, C17orf100, 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, ACAP1, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, SLC2A4, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2 1 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 308 154 399 783 30 0 1674
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 113 22 200 2 15 0 352
Natera, Inc. 49 98 125 15 11 0 298
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 39 128 59 22 14 0 262
Baylor Genetics 75 121 5 1 0 0 202
Counsyl 2 72 62 46 1 0 183
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 31 18 59 17 14 0 139
Fulgent Genetics, Fulgent Genetics 29 67 14 3 2 0 115
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 43 45 0 0 0 0 88
Revvity Omics, Revvity 19 19 35 0 0 0 73
Illumina Laboratory Services, Illumina 4 2 42 6 9 0 63
Myriad Genetics, Inc. 7 26 8 0 0 0 41
Genome-Nilou Lab 2 2 12 1 4 0 21
OMIM 12 0 0 0 0 0 12
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 2 5 4 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 5 4 0 0 0 11
Mendelics 5 2 2 0 1 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 1 0 0 0 9
3billion 0 2 2 2 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 5 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 0 0 6
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
Variantyx, Inc. 2 3 0 0 0 0 5
Department of Human Genetics, Hannover Medical School 1 2 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
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
Breakthrough Genomics, Breakthrough Genomics 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
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, TUM University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
NxGen MDx 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1

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