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. Author manuscript; available in PMC: 2020 Aug 19.
Published in final edited form as: Ann Intern Med. 2019 Apr 30;170(9):635–642. doi: 10.7326/M18-0425

Table 1.

American College of Medical Genetics and Genomics Variant Classifications

Classification Meaning
Pathogenic Disease-causing
Likely pathogenic >90% chance variant is disease-causing
Variant of uncertain significance Uncertain whether variant is disease-causing
Likely benign >90% chance variant is not disease-causing
Benign Not disease-causing