The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA130584 39816
VCEP: Brain Malformations VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) | Pathogenic | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-12 | 2.0 | - | AKT3 |
| View | NM_181690.2(AKT3):c.49G>A (p.Glu17Lys) | Pathogenic | cerebral malformation | 2021-09-27 | 1.0 | - | AKT3 |
Showing 1 to 2 of 2 rows