Introduction
ACMG/AMP published classification guidelines in 2015.
Five classes
Pathogenic, likely pathogenic, VUS, likely benign, benign.
Criteria
Combination of population, functional, computational and segregation evidence.
ACMG provides a standardized framework for variant interpretation.
ACMG/AMP published classification guidelines in 2015.
Pathogenic, likely pathogenic, VUS, likely benign, benign.
Combination of population, functional, computational and segregation evidence.
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Gene Negar Ayandegan · ACMG Variant Classification