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: CA000116 184068
VCEP: PTEN VCEP
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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000314.7(PTEN):c.114T>G (p.Pro38=)
Likely Benign
PTEN hamartoma tumor syndrome2024-12-16
2.0
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0PTEN
View NM_000314.7(PTEN):c.114T>G (p.Pro38=)
Uncertain Significance
PTEN hamartoma tumor syndrome2020-03-25
1.0
-PTEN
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