The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Showing 1 to 2 of 2 rows
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 syndrome | 2022-09-30 | 1.1 | ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | PTEN |
View | NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr) | Likely Pathogenic | PTEN hamartoma tumor syndrome | 2019-07-23 | 1.0 | - | PTEN |
Showing 1 to 2 of 2 rows