The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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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 syndrome | 2024-12-16 | 2.0 | ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0 | PTEN |
View | NM_000314.7(PTEN):c.114T>G (p.Pro38=) | Uncertain Significance | PTEN hamartoma tumor syndrome | 2020-03-25 | 1.0 | - | PTEN |
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