Genetic & Genomic MedicineHuman MutationPeer-reviewed
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado…·Micheala A. Aldred
The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.
5 citations