The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA341522 21022
VCEP: ACADVL VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) | Benign | very long chain acyl-CoA dehydrogenase deficiency | 2022-09-22 | 1.0 | - | ACADVL |
Showing 1 to 1 of 1 rows