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: CA8337855 371635
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.799_802del (p.Val267fs) | Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2025-03-31 | 1.1 | - | ACADVL |
| View | NM_000018.4(ACADVL):c.799_802del (p.Val267fs) | Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2023-06-27 | 1.0 | - | ACADVL |
Showing 1 to 2 of 2 rows