Bioinformatics (Clinically Relevant Databases) L9: What is Mendelian disease variant terminology?

Question

What is Mendelian disease variant terminology?

Shay 1vcc · Accepted Answer

• Pathogenic
• Likely pathogenic ← (≥90% confidence) • Uncertain significance (VUS)
• Likely benign
• Benign
Replace terms “mutation” and “polymorphism” with “variant”

Bioinformatics (Clinically Relevant Databases) L9

What is Mendelian disease variant terminology?

• Pathogenic • Likely pathogenic ← (≥90% confidence) • Uncertain significance (VUS) • Likely benign • Benign Replace terms “mutation” and “polymorphism” with “variant”

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