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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) | Likely Benign | pulmonary arterial hypertension | 2024-05-03 | 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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