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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) | Likely Pathogenic | very long chain acyl-CoA dehydrogenase deficiency | 2023-11-28 | 2.0 | - | ACADVL |
View | NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) | Uncertain Significance | very long chain acyl-CoA dehydrogenase deficiency | 2022-12-15 | 1.0 | - | ACADVL |
Showing 1 to 2 of 2 rows