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: CA251907 1632
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.1372T>C (p.Phe458Leu) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-14 | 1.0 | - | ACADVL |
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