Uncouple Classification from Clinical Significance
11
Clinical Significance
12
Why is this important
13
Quantitative Points Based Evaluation Framework
14
Evidence Categories
15
Special Considerations
16
Consistency
17
Other Supporting Information
18
Gene Number
19
Data
20
Case Based Evidence
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Segregation
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NonSegregation
23
Case Control Studies
24
Family History
25
Calculator Tool
26
Scoring Mattress
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Calculating Appropriate Classification
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Improving Interlaboratory Concordance
29
Metric Based Classifications
30
Duplicates
31
Full Set
32
Summary
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Questions
34
How is the metric updated
35
Do you see the value to the clinician
36
concordance rates
37
publication date
38
closing remarks
Description:
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