Interpretation and Reporting of Sequence Variants — Inherited Conditions
Please note that this webinar was recorded in 2017. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies my have since been published.
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Description:
The webinar covers the development of the publication "AMP/ACMG Standards and Guidelines for the Interpretation of Sequence Variants". Attendees will learn how to apply the guidelines to classify individual sequence variants.
Learning Objectives:
- Classify constitutional sequence variant as Benign using the ACMG/AMP/CAP Standards and Guidelines for the Interpretation of Sequence Variants.
- Classify constitutional sequence variants as Pathogenic, Likely Pathogenic or Variant of Uncertain Significance using the ACMG/AMP/CAP Standards and Guidelines for the Interpretation of Sequence Variants.
- Apply the "Chinese Menu" approach to classifying constitutional sequence variants.
Practice Guideline Available Here
Speaker: Elaine B. Spector, PhD. FACMG
Host: Kristy Crooks, PhD
Duration: 1 hr
Level of Instruction: Basic
Recording Date: July 19, 2017
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