Genetic & Genomic MedicineHuman MutationPeer-reviewed
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Cristina Fortuño, Kristy Lee, Magali Olivier…·the ClinGen TP53 Variant Curation Expert Panel
The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.
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