Variant Classification

Question 1

What is the basis of variant classification and how is this changing?

Answer 1

See separate slide deck on this.

Question 2

What additional points need to be considered?

Answer 2

• Quality assurance of inter-intra-lab variability
• What are the many exceptions to the rules outlines in the guidelines?
• Are the standard ACMG guidelines suitable for use in somatic variant interpretation or non-severe genetic disorders?
• See separate guidelines for Somatic / Cardiomyopathy etc
• What about mitochondrial variants