Showing 1 to 5 of 5 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) | Pathogenic | RASopathy | 2024-10-02 | 2.3 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.1.0 | SHOC2 |
| View | NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) | Pathogenic | RASopathy | 2024-09-27 | 2.2 | - | SHOC2 |
| View | NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) | Pathogenic | RASopathy | 2024-09-27 | 2.1 | - | SHOC2 |
| View | NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) | Pathogenic | RASopathy | 2024-09-27 | 2.0 | - | SHOC2 |
| View | NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) | Pathogenic | RASopathy | 2024-09-27 | 1.0 | - | SHOC2 |
Showing 1 to 5 of 5 rows