How are genetic variants classified?

Question

Accepted Answer

Variants found in patients are classified into five stages, according to 28 rules from the ACMG/AMP Standards and Guidelines, as follows:

Pathogenic (P): When there is a known variant that is associated with the symptoms
Likely pathogenic (LP) – When there is a known variant that is likely associated with the symptom
Variants of unknown significance (VUS) – When there is a variant but there is insufficient evidence of pathogenicity
Likely benign (LB) – When there is a highly benign variant
Benign (B) – When there is a known benign variant

You can find more detailed information on variant classification in the ACMG/AMP Standards and Guidelines.

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