Overview of challenging areas of variant interpretation, the correct application of specific criteria, and a review of current best practice guidance.
This educational webinar (Run 10, webinar 1), which took place on 15th March 2023 was provided by experts Trudi McDevitt (Senior Clinical Scientist, Dept. of Clinical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland) and Miranda Durkie (Lead Clinical Scientist, North East & Yorkshire Genomic Laboratory), and hosted by Dr. Simon Patton (EMQN CIC) and Prof. Sandi Deans (GenQA), to provide insight into challenging areas of variant interpretation, the correct application of specific criteria, and a review of current best practice guidance.
If you have any further questions, please contact GenQA at info@genqa.org or EMQN at office@emqn.org.