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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) | Benign | Pitt-Hopkins syndrome | 2025-06-30 | 2.0 | ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 4.0.0 | TCF4 |
| View | NM_001083962.1(TCF4):c.1283G>T (p.Gly428Val) | Likely Benign | Pitt-Hopkins syndrome | 2021-05-17 | 1.0 | - | TCF4 |
Showing 1 to 2 of 2 rows