ClinVar Miner

Variants in gene ACADVL

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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
184 154 417 205 31 812

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Very long chain acyl-CoA dehydrogenase deficiency 173 135 390 161 28 750
not provided 52 27 64 27 3 165
not specified 0 4 15 46 12 75
Inborn genetic diseases 0 0 2 0 0 2
Myopathy; Rhabdomyolysis 0 2 0 0 0 2
Abnormality of circulating enzyme level; Rhabdomyolysis 1 0 0 0 0 1
Pearson syndrome 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 97 28 158 119 20 422
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 111 22 199 2 14 348
Counsyl 3 72 53 46 1 175
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 27 17 44 14 9 111
GeneDx 33 20 9 39 8 109
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 5 48 1 8 81
Illumina Clinical Services Laboratory,Illumina 4 2 52 3 7 68
Natera, Inc. 11 4 29 5 9 58
Integrated Genetics/Laboratory Corporation of America 13 6 5 1 2 27
PreventionGenetics, PreventionGenetics 0 0 0 12 6 18
CeGaT Praxis fuer Humangenetik Tuebingen 8 1 1 4 0 14
Baylor Genetics 8 3 2 0 0 13
OMIM 12 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 4 1 3 0 1 9
Mendelics 2 1 2 0 1 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 1 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 5
GeneReviews 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Phosphorus, Inc. 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 1
NxGen MDx 0 0 1 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Nilou-Genome Lab 0 1 0 0 0 1

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