Understanding genetic variants of uncertain significance

Abstract

Journal Article Understanding genetic variants of uncertain significance Get access Alyssa C M Joynt, BScH, Alyssa C M Joynt, BScH Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Search for other works by this author on: Oxford Academic Google Scholar Michelle M Axford, PhD, Michelle M Axford, PhD Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, CanadaDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada Search for other works by this author on: Oxford Academic Google Scholar Lauren Chad, MD, Lauren Chad, MD Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, CanadaDepartment of Paediatrics, University of Toronto, Toronto, Ontario, Canada Search for other works by this author on: Oxford Academic Google Scholar Gregory Costain, MD PhD Gregory Costain, MD PhD Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, CanadaDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, CanadaDepartment of Paediatrics, University of Toronto, Toronto, Ontario, Canada Correspondence: Gregory Costain, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada. Telephone [phone] X301480, fax [phone], E-mail [e-mail] https://orcid.org/0000-0003-0099-9945 Search for other works by this author on: Oxford Academic Google Scholar Paediatrics & Child Health, Volume 27, Issue 1, March 2022, Pages 10–11, https://doi.org/10.1093/pch/pxab070 Published: 13 September 2021 Article history Received: 15 June 2021 Accepted: 06 August 2021 Published: 13 September 2021