What variant classifications mean
Five ACMG tiers describe the strength of evidence that a variant causes disease, not a prediction about you. Benign variants aren’t listed.
We use the five-tier ACMG scale, the same one used by clinical laboratories worldwide. A classification is a statement about the evidence for a variant causing disease, not a prediction about you.
Pathogenic and likely pathogenic variants have strong evidence of disease association. These are reported with context about penetrance — how often carrying the variant actually leads to the condition.
Likely benign and benign variants are not reported individually. There are millions of them in every genome.
Classifications change as evidence accumulates. We re-review reported variants annually and email you if a classification moves.