Variant
A genetic variant is a difference in DNA sequence. Some variants are harmless, some influence traits, some increase disease risk, and some cause disease. Genetic reports may describe variants as pathogenic, likely pathogenic, benign, likely benign, or a variant of uncertain significance. The meaning of a variant depends on evidence, inheritance, gene function, symptoms, and what is known in scientific databases and clinical practice.
Why it matters
Rare disease diagnosis often begins with a variant. Understanding what is known, uncertain, or still being studied can help families interpret genetic reports without assuming every DNA difference is the answer.
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