Explore a systematic framework for interpreting copy number variants in this informative webinar presented by Ambry Genetics. Delve into proposed updates to the ACMG guidelines for postnatal constitutional CNV interpretation, including the adoption of a 5-tier classification system and the implementation of a quantitative, evidence-based evaluation framework for copy number gains and losses. Learn about the importance of uncoupling variant classification from clinical interpretation and gain insights into improving inter-laboratory consistency. Discover how the new framework incorporates various evidence categories, special considerations, and a calculator tool for determining appropriate classifications. Presented by Erin Riggs, MS, CGC, an expert in gene and variant curation, this 55-minute webinar offers valuable knowledge for genetic professionals seeking to enhance their understanding of CNV interpretation and its clinical implications.
A Systematic Framework for the Interpretation of Copy Number Variants - Webinar - Ambry Genetics
Overview
Syllabus
Intro
Disclaimer
Variant Interpretation
Guidelines
Deletions
Duplications
The Current Scene
Proposed Changes
Classification System
Uncouple Classification from Clinical Significance
Clinical Significance
Why is this important
Quantitative Points Based Evaluation Framework
Evidence Categories
Special Considerations
Consistency
Other Supporting Information
Gene Number
Data
Case Based Evidence
Segregation
NonSegregation
Case Control Studies
Family History
Calculator Tool
Scoring Mattress
Calculating Appropriate Classification
Improving Interlaboratory Concordance
Metric Based Classifications
Duplicates
Full Set
Summary
Questions
How is the metric updated
Do you see the value to the clinician
concordance rates
publication date
closing remarks
Taught by
Ambry Genetics
