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: CA341519 21017
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.1405C>T (p.Arg469Trp) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2024-12-10 | 1.1 | ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | ACADVL |
| View | NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-10-12 | 1.0 | ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | ACADVL |
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