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
81 122 206 141 28 478

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Very long chain acyl-CoA dehydrogenase deficiency 59 96 159 56 11 332
not provided 46 26 66 55 20 204
not specified 1 4 11 46 12 72
Muscular Diseases; Rhabdomyolysis 0 2 0 0 0 2
Abnormality of circulating enzyme level; Rhabdomyolysis 1 0 0 0 0 1
Pearson marrow-pancreas syndrome 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 13 84 55 20 211
Counsyl 4 74 53 46 1 178
GeneDx 31 20 9 39 8 107
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 15 36 9 8 91
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 5 48 1 8 81
Illumina Clinical Services Laboratory,Illumina 4 2 29 3 1 39
PreventionGenetics,PreventionGenetics 0 0 0 12 6 18
GeneReviews 6 0 0 0 7 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
Baylor Genetics 6 2 0 0 0 8
Integrated Genetics/Laboratory Corporation of America 4 4 0 0 0 8
Mendelics 2 1 2 0 1 6
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Phosphorus, Inc. 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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