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: CA130573 39808
VCEP: Brain Malformations VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) | Pathogenic | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-17 | 2.1 | - | PIK3R2 |
| View | NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) | Pathogenic | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-12 | 2.0 | - | PIK3R2 |
| View | NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) | Pathogenic | cerebral malformation | 2021-09-27 | 1.0 | - | PIK3R2 |
Showing 1 to 3 of 3 rows