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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) | 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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