The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Variant: CA10584584 246221
VCEP: TP53 VCEP
Showing 1 to 2 of 2 rows
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 syndrome2025-01-16
2.0
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.0.0TP53
View NM_000546.5(TP53):c.1136G>A (p.Arg379His)
Likely Benign
Li-Fraumeni syndrome 12021-09-24
1.0
-TP53
Showing 1 to 2 of 2 rows
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