Receiving a variant of unknown significance (VUS) result from genetic testing can be challenging. We are committed to offering clinicians clear, accurate, clinically-relevant details about a VUS, to help the patients and families impacted by these results.
Pathogenic Mutation | Alterations with sufficient evidence to classify as pathogenic (capable of causing disease). Targeted testing of at-risk family members and appropriate changes in medical management (i.e. high risk surveillance) for pathogenic mutation carriers recommended. A pathogenic mutation is always included in results reports. |
Variant, Likely Pathogenic (VLP) | Alterations with strong evidence in favor of pathogenicity. Targeted testing of at-risk family members and appropriate changes in medical management (i.e. high risk surveillance) for VLP carriers recommended. A VLP is always included in results reports. |
Variant, Unknown Significance (VUS) | Alterations with limited and/or conflicting evidence regarding pathogenicity. Targeted testing of informative family members to collect cosegregation data via our Family Studies Program recommended. Medical management based on personal and family histories, not VUS carrier status. A VUS is always included in results reports. |
Variant, Likely Benign (VLB) | Alterations with strong evidence against pathogenicity Targeted testing of at-risk family members not recommended. Medical management based on personal and family histories. A VLB is not routinely included in results reports. |
Benign | Alterations with very strong evidence against pathogenicity. Targeted testing of at-risk family members not recommended. Medical management based on personal and family histories. Benign alterations are not routinely included in results reports. |