domains / families / science / variant-interpretation-acmg

variant-interpretation-acmg

separate

Classifies genetic variants according to ACMG guidelines using a rules-based engine to determine clinical significance.

When to use

• When analyzing a VCF file for clinical reporting.
• To determine the clinical significance of a specific mutation (e.g., BRCA1 c.123A>G).
• To aggregate evidence (population freq, computational predictions) into a final verdict.

Skill page

Source