The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA312290 203594
VCEP: ACADVL VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000018.4(ACADVL):c.343-1G>A | Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-04-06 | 1.0 | - | ACADVL |
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