Clinical and genetic evidence and population evidence

Abstract When performing a genetic test the identification of a variation from the reference sequence is important but much work needs to be done before that identification can lead to a diagnosis. DNA variants require interpretations which ought to be thorough and require the reviewer to have expertise in medical genetics. Interpretations are exceedingly important, when performed incorrectly they can lead to false negatives or false positives. Variants not given the proper attention can be called uncertain when a more conclusive assessment could be given. Here we attempt to cover important areas relating to evidence utilized in DNA variant assessments from a medical genetics perspective. We hope to display that the phenotypes of the patient being tested as well as the phenotypes of the subjects behind much of the data in the assessment should always be considered.