Article

Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar

2024-11-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose: </h4> Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( BMPR2 ) gene. We formed a ClinGen variant curation expert panel to devise guidelines for the clinical interpretation of BMPR2 variants identified in PAH patients. <h4>Methods:</h4> The general ACMG/AMP variant cla...

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Literature Corpus work: 7970496b-3d04-5ae4-a8f9-a58031a2ee1d
DOI: 10.1101/2024.11.24.24317862

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Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarDOI 10.1101/2024.11.24.24317862Read

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