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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001204.7(BMPR2):c.1175T>C (p.Val392Ala) | Uncertain Significance | pulmonary arterial hypertension | 2024-11-06 | 1.0 | ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0 | BMPR2 |
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