ea0086p43 | Endocrine Cancer and Late Effects | SFEBES2022
Trip Ilse
, McClean Joanne
, Goudie David
, Newey Paul
Introduction: The successful implementation of clinical genetic testing relies on accurate variant interpretation, as misclassification can result in significant harm to the patient and wider family. Missense single nucleotide variants (SNVs) pose a particular challenge, with current interpretation methods often unable to differentiate pathogenic variants from rare neutral variants, resulting in high numbers of variants of uncertain significance (VUS), and diagnostic uncertain...