RAD51C/RAD51D: CanVIG-UK Gene-Specific Guidance
Year: 2024
Type: other
Abstract: CanVIG-UK review of RAD51C/RAD51D May 2024: Consensus to use relevant recommendations from the ClinGen ATM VCEP guidance, v1.3.0 (attached and also available at: https://clinicalgenome.org/affiliation/50039/) for RAD51C/RAD51D variants reported under indication R207 and/or R208 of the UK Genomic Test Directory. This scope of this test indication currently includes truncating variants (defined as: nonsense, frameshift and canonical splice site (+/- 1/2) variants). Additional points of specification are given below. Evidence items in grey are not relevant to truncating variants. This guidance is intended for use in classification of truncating variants only as per current UK Test Directory.
Authors: Garrett, Alice, Allen, Sophie, Loong, Lucy, Durkie, Miranda, Burghel, George J, Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Hughes, Lowri, Snape, Katie, McVeigh, Terri, Hanson, Helen, Turnbull, Clare, CanVIG-UK
Institutions: Institute of Cancer Research, St George’s University Hospitals NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, University of Manchester, Manchester University NHS Foundation Trust, Leeds Teaching Hospitals NHS Trust, University Hospital Southampton NHS Foundation Trust, Nottingham University Hospitals NHS Trust, Cardiff and Vale University Health Board, University Hospital of Wales, NHS Greater Glasgow and Clyde, Queen Elizabeth University Hospital, Western General Hospital, Children's Health Ireland at Crumlin, Birmingham Women’s and Children’s NHS Foundation Trust, Royal Marsden NHS Foundation Trust, University of Exeter, Royal Devon University Healthcare NHS Foundation Trust
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W6911772902
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