ClinVar Miner

Variants in gene ACADVL

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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
353 475 752 802 43 29 1971

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Very long chain acyl-CoA dehydrogenase deficiency 344 455 670 778 32 2 1875
not provided 67 50 107 41 20 4 260
not specified 0 4 71 44 11 0 126
Inborn genetic diseases 5 4 65 33 0 0 107
ACADVL-related disorder 13 10 16 17 1 0 57
Ovarian serous cystadenocarcinoma 0 0 0 0 0 11 11
Abnormality of the musculature 0 3 0 0 0 0 3
Acute rhabdomyolysis 1 2 0 0 0 0 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Incidental Discovery 1 0 1 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Myopathy; Rhabdomyolysis 0 2 0 0 0 0 2
See cases 2 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Abnormal circulating enzyme concentration; Rhabdomyolysis 1 0 0 0 0 0 1
Cardiac arrhythmia 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Likely inborn error of metabolism 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Pearson syndrome 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 292 146 365 724 26 0 1553
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 104 22 191 2 12 0 331
Natera, Inc. 46 89 116 13 9 0 273
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 35 120 56 18 9 0 238
GeneDx 44 33 48 46 23 0 194
Baylor Genetics 70 116 5 1 0 0 192
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 33 25 73 18 10 0 159
Counsyl 2 64 46 43 1 0 156
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 40 43 62 5 3 0 153
Ambry Genetics 5 4 65 33 0 0 107
Fulgent Genetics, Fulgent Genetics 28 62 12 3 0 0 105
Eurofins Ntd Llc (ga) 18 5 47 1 7 0 78
PreventionGenetics, part of Exact Sciences 13 10 16 28 6 0 73
Revvity Omics, Revvity 17 18 34 0 0 0 69
Illumina Laboratory Services, Illumina 4 2 38 6 6 0 56
Mayo Clinic Laboratories, Mayo Clinic 9 6 14 13 8 0 50
CeGaT Center for Human Genetics Tuebingen 16 6 11 14 1 0 48
Myriad Genetics, Inc. 7 24 8 0 0 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 27 27
Breakthrough Genomics, Breakthrough Genomics 0 1 4 9 9 0 23
Genome-Nilou Lab 2 2 10 1 3 0 18
Mendelics 5 2 4 0 1 0 12
OMIM 12 0 0 0 0 0 12
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 1 5 4 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 4 1 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 1 3 0 1 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 1 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 2 0 0 1 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 5 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 2 4 0 0 0 0 6
3billion 0 2 2 1 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 3 1 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 2 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 3 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 2 1 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
NHS Central & South Genomic Laboratory Hub 1 2 1 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 3 0 0 0 0 0 3
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
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 1 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
Dasa 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1 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
Blueprint Genetics 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 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
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 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
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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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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