Classification of variants is the basis of a correct genetic diagnosis, being that it is crucial for the clinical experts when making decisions, having an impact on the treatment and the genetic assessment of the patients and their families.
Having up to date information from both our own and international genetic databases such as the medical-scientific bibliography is vital to be able to reach a reliable and accurate conclusion with regards to the possible pathogenicity of each genetic variant. Incorrect classification could lead to an incorrect diagnosis of a patient and even have serious consequences on the stratification risk for family members.
At Reference Laboratory we classify the variants based on the recommendations from the American College of Medical Genetics and Genomics (ACMG). It relates to a system of qualitative evaluation with 28 classification criteria, those of which are assigned major or minor pathogenicity or benignity (very solid/solid/moderate/supported). In order to have a certain degree of flexibility the possibility exists to increase or decrease the weight of the evidence following the criteria and experience of the professional.
Using this guide the variants can be classified into 5 classes: