Variant Classification Flashcards
1
Q
What is the basis of variant classification and how is this changing?
A
See separate slide deck on this.
2
Q
What additional points need to be considered?
A
- 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
