This is the first essential question we address before issuing a clinical report. To do so, we review all of the evidence for a particular gene and try to establish, using the Sherloc guidelines, that there is at least one pathogenic variant observed in clinically affected individuals that definitely causes the condition. For more information see, “Why do you only need one variant to determine whether a gene causes a specific disease?”
Articles in this section
- 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?
- How does Invitae determine which transcript to use?
- How do you know which genes cause which diseases?
- Why do you only need one variant to determine whether a gene causes a specific disease?
- Can Invitae interpret a variant for me?