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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2024-12-10 | 1.1 | ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | ACADVL |
| View | NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2022-07-12 | 1.0 | ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | ACADVL |
Showing 1 to 2 of 2 rows