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: CA251906 1628
VCEP: ACADVL VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.2 | - | ACADVL |
| View | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.1 | - | ACADVL |
| View | NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.0 | - | ACADVL |
Showing 1 to 3 of 3 rows