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: CA377485523 428268
VCEP: PTEN VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) | Likely Pathogenic | PTEN hamartoma tumor syndrome | 2020-03-26 | 1.0 | - | PTEN |
Showing 1 to 1 of 1 rows