Article
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2022
Loong Lucy, Garrett Alice, Allen Sophie, Choi Subin, Durkie Miranda, Callaway Alison, Drummond James, Burghel George J, Robinson Rachel, Torr Beth, Berry Ian R, Wallace Andrew J, Eccles Diana M, Ellard Sian, Baple Emma, Evans D Gareth, Woodward Emma R, Kulkarni Anjana, Lalloo Fiona, Tischkowitz Marc, Lucassen Anneke, Hanson Helen, Turnbull Clare
Abstract excerpt
PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classification of likely pathogenic or pathogenic, clinical actions may be irreversible, such as risk-reducing surgery or prenatal interventions. Variant reclassification up...
Topics
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Humans
- Laboratories
- Neoplasms