The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA350341605 425876
VCEP: Pulmonary Hypertension VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) | Pathogenic | pulmonary arterial hypertension | 2024-09-20 | 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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