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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000314.8(PTEN):c.402G>C (p.Met134Ile) | Likely Pathogenic | PTEN hamartoma tumor syndrome | 2022-09-30 | 1.0 | ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | PTEN |
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