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
66 111 182 99 19 395

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Very long chain acyl-CoA dehydrogenase deficiency 38 82 133 61 17 292
not provided 47 27 67 1 3 139
not specified 2 5 11 47 12 74
Muscular Diseases; Rhabdomyolysis 0 2 0 0 0 2
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 4 74 53 46 1 178
Invitae 28 6 67 12 14 127
GeneDx 31 20 9 36 7 103
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 5 48 1 8 81
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 16 11 26 5 5 63
Illumina Clinical Services Laboratory,Illumina 4 2 29 3 1 39
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
Integrated Genetics/Laboratory Corporation of America 4 4 0 0 0 8
Fulgent Genetics 3 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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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