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: CA000456 182938
VCEP: TP53 VCEP
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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001126112.2(TP53):c.845G>T (p.Arg282Leu)
Uncertain Significance
Li-Fraumeni syndrome 12021-06-16
1.0
-TP53
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