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: CA10584584 246221
VCEP: TP53 VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000546.5(TP53):c.1136G>A (p.Arg379His) | Likely Benign | Li-Fraumeni syndrome | 2025-01-16 | 2.0 | ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.0.0 | TP53 |
View | NM_000546.5(TP53):c.1136G>A (p.Arg379His) | Likely Benign | Li-Fraumeni syndrome 1 | 2021-09-24 | 1.0 | - | TP53 |
Showing 1 to 2 of 2 rows