Reclassification of VUS in BRCA1 and BRCA2 Using the New “BRCA1/BRCA2 ENIGMA Track Set” Demonstrates the Superiority of ClinGen´s ENIGMA Expert Panel Specifications over the Standard ACMG/AMP Classification System
Genetics in Medicine Open（2025）
Key words
ACMG/AMP,BRCA1,BRCA2,VUS,cold spot,variant classification,UCSC Genome Browser,recommended track set,clinical genetics,Single Nucleotide Variant,SNV,ENIGMA
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