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ACGS Best Practice Guidelines for Variant Classification 2019

Copyright ACGS 2019 Page 1 ACGS Best Practice Guidelines for Variant Classification 2019 Sian Ellard1,2, Emma L Baple2,3,4, Ian Berry5, Natalie Forrester6, Clare Turnbull4, Martina Owens1, Diana M Eccles7, Stephen Abbs8, Richard Scott4,9, Zandra C Deans10, Tracy Lester11, Jo Campbell12, William G Newman13,14 and Dominic J McMullan15 1. Department of molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK. 2. University of Exeter Medical School, Exeter, EX2 5DW, UK. 3. Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK.

A molecular genetic diagnosis underpins robust disease classification, provision of prognostic information, accurate risk prediction for relatives, and importantly can indicate the most appropriate treatment(s), inform access to clinical screening, prevention strategies or

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  Prediction, Molecular

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