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.1093G>A (p.Val365Ile) | Uncertain Significance | PTEN hamartoma tumor syndrome | 2023-12-14 | 1.1 | ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0 | PTEN |
| View | NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) | Uncertain Significance | PTEN hamartoma tumor syndrome | 2019-07-23 | 1.0 | - | PTEN |
Showing 1 to 2 of 2 rows