Classify PKP2 (plakophilin-2) variants using ACMG criteria for pathogenicity in ARVC. Frameshift and nonsense variants are typically pathogenic; missense variants require extensive evidence.
Classify PKP2 (plakophilin-2) variants using ACMG criteria for pathogenicity in ARVC. Frameshift and nonsense variants are typically pathogenic; missense variants require extensive evidence
Each component has a specific meaning:
Note: Interpret the pkp2 pathogenicity result against the thresholds and context described above.
Enter the ACMG criteria for the scenario you are assessing. Classify PKP2 (plakophilin-2) variants using ACMG criteria for pathogenicity in ARVC. Frameshift and nonsense variants are typically pathogenic; missense variants require extensive evidence. Use the pkp2 pathogenicity result to inform your calculation.