ClinVar Miner

Variants in gene combination ACADVL, DVL2

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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
2 4 0 1 1 6

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic likely benign benign total
Very long chain acyl-CoA dehydrogenase deficiency 2 4 0 0 4
not provided 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic likely benign benign total
Baylor Genetics 1 1 0 0 2
GeneDx 0 0 1 1 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 2
Counsyl 0 2 0 0 2
Invitae 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 2
Myriad Genetics, Inc. 0 2 0 0 2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 1
Natera, Inc. 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1

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