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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_006939.4(SOS2):c.800T>A (p.Met267Lys) | Likely Pathogenic | RASopathy | 2024-10-01 | 1.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.1.0 | SOS2 |
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