Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle
The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.
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