ClinVar Miner

Variants in gene ACADS

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 not provided total
26 50 89 14 10 3 145

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deficiency of butyryl-CoA dehydrogenase 16 37 84 10 7 3 129
not provided 19 14 8 0 1 0 42
not specified 0 0 1 5 8 0 14

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 1 32 33 0 0 0 66
GeneDx 19 13 7 4 6 0 49
Invitae 3 4 35 1 3 0 46
Illumina Clinical Services Laboratory,Illumina 3 2 19 9 5 0 38
OMIM 16 0 0 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 2 0 5 0 10
PreventionGenetics 0 0 0 2 4 0 6
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 0 4
GeneReviews 1 2 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 1 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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