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2023/09/11Overview of ACMG Classification
Mastermind Features for ACMG Classification
Literature for ACGM Classification
Clinical Studies
De novo Evidence Example - OTC p.R141Q
Segregation Evidence Example - SCN1A p.R542Q
Functional Studies & Functional Evidence Example - CPT2 p.D328G
A Landscape View for Gene-Level Criteria
Quickly Identify Variants by Residue
Variant Residue Example - SLC19A3 p.E320K
View Clustering of Variants on the Protein
Explore Genetic Mechanism
Truncating Variant Example - PALB2 p.G1178X
Impact of Complete Evidence on Classification