Sentences with «variant of uncertain significance»
This is the case at the level of loci (e.g. identifying causal variants underlying genome - wide associations), genes (e.g. understanding not only that mutations in gene X underlie a given phenotype, but also the how and why of it), and variants (e.g. variants of uncertain significance). (ashg.org)
In addition, many laboratories do not routinely report variants of uncertain significance (VUS) related to carrier status results. (ashg.org)
We are studying the frequency of particular characteristics such as cancer diagnoses among those with PTEN alterations; working to clarify variants of uncertain significance; and exploring alternative mechanisms of disease in patients without identified mutations. (lerner.ccf.org)