Abstract
Determining the clinical significance of genetic variants is a process that involves gathering evidence and assigning a level of certainty regarding the ability of the variant to cause disease. As historical recommendations for variant interpretation did not provide standard terminology or detailed guidance, the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) addressed these issues by publishing detailed standards for how to weigh specific types of evidence and combine them to reach a classification. Since publication of the 2015 guidelines, general and disease-focused specifications have emerged, as well as quantitative adaptations, to aid in accurate and more consistent classifications of sequence variants.
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