Showing 1 to 7 of 7 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2024-04-12 | 1.6 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2023-04-06 | 1.5 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2020-05-19 | 1.4 | - | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2020-05-19 | 1.3 | - | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2020-02-14 | 1.2 | - | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2020-02-14 | 1.1 | - | GAA |
| View | NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) | Uncertain Significance | glycogen storage disease II | 2020-02-05 | 1.0 | - | GAA |
Showing 1 to 7 of 7 rows