In this paragraph, we summarize the current state of scientific literature for the variants found and discuss them in relation to the patient. The more clinical information that is provided by the referring physician, the more accurate and precise our evaluation can be. This is of particular importance with findings from panel or exome sequencing, as variants may be identified which do not yet have a clear clinical association.
We then explain in a concluding summary sentence the strength of the evidence and associations with the clinical features of the patient.
4 Variants of Unknown Significance
In some cases, the second table may also be employed to indicate further variants which may have an unclear association with the indicated disease. Variants will be placed in one of the two tables based upon, but not limited to; published data, frequency in the normal population, and pathogenicity predictions given by several pathogenicity prediction algorithms. These data are used to make an assessment on the role of the gene in disease, and the potential changes to the function of the expressed protein.