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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) | Pathogenic | RASopathy | 2025-03-31 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.3.0 | HRAS |
View | NM_176795.4(HRAS):c.173C>T (p.Thr58Ile) | Pathogenic | Costello syndrome | 2018-12-10 | 1.0 | - | LRRC56 |
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