When a person undergoes a genetic test it can identify a variant(change), but it is unclear whether that variant is actually connected to a health condition for example Lynch Syndrome.
https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2825808
Conclusions and Relevance In this cohort study of individuals undergoing genetic testing, the empirically estimated accuracy of pathogenic, likely pathogenic, benign, and likely benign classifications exceeded the certainty thresholds set by current variant classification guidelines, suggesting the need to reevaluate definitions of these classifications.
The relative contribution of various strategies to resolve VUS, including emerging machine learning–based computational methods, RNA analysis, and cascade family testing, provides useful insights that can be applied toward further improving VC methods, reducing the rate of VUS, and generating more definitive results for patients.
Lynch Syndrome Ireland 