Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these gene...

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Published in:Human mutation 2024, Vol.2024, p.1-13
Main Authors: DeMille, Desiree, McDonald, Jamie, Bernabeu, Carmelo, Racher, Hilary, Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, Arupa, Kasthuri, Raj S., Jessen, Jaime, Massink, Maarten P. G., Ichikawa, Shoji, Bayrak-Toydemir, Pinar
Format: Article
Language:English
Subjects:
Activin Receptors, Type II - genetics
Age
Classification
Endoglin - genetics
Epistaxis
Family medical history
Genes
Genetic counseling
Genetic Testing - standards
Genetic Variation
Genomics
Genotype & phenotype
Hemorrhage
Hereditary hemorrhagic telangiectasia
Humans
Laboratories
Standardization
Telangiectasia, Hereditary Hemorrhagic - diagnosis
Telangiectasia, Hereditary Hemorrhagic - genetics
Working groups
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