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_000314.6(PTEN):c.104T>G (p.Met35Arg) | Pathogenic | PTEN hamartoma tumor syndrome | 2019-07-23 | 1.0 | - | PTEN |
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