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: CA000581 127674
VCEP: PTEN VCEP
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Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000314.6(PTEN):c.-798G>C
Uncertain Significance
PTEN hamartoma tumor syndrome2021-04-29
1.0
-PTEN
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