Article
Variant classification changes over time in BRCA1 and BRCA2.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2019
Mighton Chloe, Charames George S, Wang Marina, Zakoor Kathleen-Rose, Wong Andrew, Shickh Salma, Watkins Nicholas, Lebo Matthew S, Bombard Yvonne, Lerner-Ellis Jordan
Abstract excerpt
PURPOSE: To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments and reclassifications between 2012 and 2017 at the Advanced Molecular Diagnostics Laboratory (AMDL) in Toronto, Canada, which provides BRCA1/2 testing for patients in Ontario, and to compare AMDL variant classifications with submissions in ClinVar. METHODS: Variants were assessed using a standardized variant assessment tool based on the American...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.