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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000314.6(PTEN):c.740T>C (p.Leu247Ser) | Likely Pathogenic | PTEN hamartoma tumor syndrome | 2023-10-19 | 1.1 | ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0 | PTEN |
| View | NM_000314.6(PTEN):c.740T>C (p.Leu247Ser) | Likely Pathogenic | PTEN hamartoma tumor syndrome | 2019-07-23 | 1.0 | - | PTEN |
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