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: CA9306657 468317
VCEP: Brain Malformations VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) | Benign | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-11 | 1.1 | - | PIK3R2 |
| View | NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) | Benign | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2021-09-27 | 1.0 | - | PIK3R2 |
Showing 1 to 2 of 2 rows