About this document
ACMG Variant Classification Overview by Dienatha Sekar Buana is a document available to read on EtoBox.
The document describes the American College of Medical Genetics (ACMG) classification system for categorizing genetic variants identified through sequencing as pathogenic, benign, or uncertain. It provides tables outlining the criteria for classifying a variant as pathogenic or benign based on various types of evidence, from very strong to supporting. Following these criteria and accounting for their strengths allows unambiguous classification of variants into five categories ranging from pathogenic to beni
- Author
- Dienatha Sekar Buana
- Language
- EN