Technology and Quality
Confirmation and interpretation
Reporting and variant interpretation
- Why are termination codons in the last exon reported as VUS?
- Do you copy or base your interpretations from ClinVar?
- How often are Pathogenic and Likely Pathogenic variants detected by deletion/duplication (CNV) analysis?
- Why is this truncation in the second-to-last exon a VUS?
- How does Invitae find and evaluate literature evidence?
- Why is "Invitae" cited as a reference in the report?