Variant classification changes over time in the clinical molecular diagnostic laboratory setting.

Abstract excerpt

BACKGROUND: Variant classification in the setting of germline genetic testing is necessary for patients and their families to receive proper care. Variants are classified as pathogenic (P), likely pathogenic (LP), uncertain significance (VUS), likely benign (LB) and benign (B) using the standards and guidelines recommended by the American College of Medical Genetics and the Association for Molecular Pathology,...

Topics

• Humans
• Genetic Testing
• Genetic Variation
• Ontario
• Germ-Line Mutation
• Neoplastic Syndromes, Hereditary
• Female
• Laboratories, Clinical
• Molecular Diagnostic Techniques