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:
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
43 86 170 65 21 343

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 43 83 133 61 17 296
ACADVL, DLG4 0 3 18 2 2 24
ACADL 0 0 19 2 2 23

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 4 77 68 46 1 196
Invitae 28 6 67 13 15 129
Illumina Clinical Services Laboratory,Illumina 4 2 51 6 4 67
GeneReviews 6 0 0 0 8 14
OMIM 12 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 1 0 0 0 12
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
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
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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