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: CA000393 142261
VCEP: PTEN VCEP
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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr)
Likely Pathogenic
PTEN hamartoma tumor syndrome2022-09-30
1.1
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2PTEN
View NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr)
Likely Pathogenic
PTEN hamartoma tumor syndrome2019-07-23
1.0
-PTEN
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