Sample report of secondary findings from whole exome or whole genome sequencing

* Pathogenicity. Interpretation by the laboratory of the level of certainty that the variant(s) are disease-causing. Secondary findings associated with disease risk are typically reported when they are classified as either pathogenic (association with an increased risk for disease is certain) or likely pathogenic (the laboratory is at least 90% certain that the variant confers an increased risk for disease). Some laboratories may use additional tiers ("variants of uncertain significance, favor pathogenic" if evidence leans towards pathogenicity).
¶ Inheritance. The inheritance pattern determines the risk that other family members will have inherited the mutation and the disease risk. In autosomal dominant conditions, inheriting one pathogenic variant from one parent is sufficient to cause disease. In autosomal recessive conditions, inheritance of a pathogenic variant from both parents is generally required to cause disease.  
Δ Sequence variant nomenclature. Most reports will state 1) whether one or both (maternally and paternally derived) alleles of the gene are affected, 2) the location within the gene that the DNA is altered and the type of alteration (eg, point mutation, deletion; in this example, missense variant), and 3) the consequences to the protein sequence.
◊ Penetrance. Likelihood that pathogenic variants will cause disease (in this example, malignant hyperthermia [MH]). Even when variants are definitively pathogenic, patients may never develop the disease. Penetrance estimates tell the likelihood of developing the disease if a pathogenic variant is present (typically, over the lifetime of the individual). Some reports include penetrance estimates in the table (such as in this example) and others report the information in unstructured text.
​§ Disease-specific information. Most reports will provide additional information about the disorder such as the mechanism of disease, conditions under which the disease may manifest (in this example, exposure to volatile anesthetics), typical symptoms, and other information, as well as citations from the literature and other resources to support the statements.