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:
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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
59 99 196 60 15 379

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACADVL 59 96 159 56 11 332
ACADVL, DLG4 0 3 18 2 2 24
ACADL 0 0 19 2 2 23

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 4 77 68 46 1 196
Invitae 39 13 84 5 1 142
Illumina Clinical Services Laboratory,Illumina 4 2 51 6 4 67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 14 7 12 5 7 45
GeneReviews 6 0 0 0 8 14
OMIM 12 0 0 0 0 12
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
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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 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
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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