Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

Logan C Walker, Phillip J Whiley, Claude Houdayer, Thomas V O Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C Southey, Alan Lafferty, Mara Colombo, Giovanna De Vecchi, Paolo Radice, Amanda B Spurdle, ENIGMA consortium