Introduction
Most variants are benign; only some are disease-causing.
Types
SNV, indel, CNV, repeats, structural variants.
Clinical significance
Interpretation per ACMG guidelines.
Variants are DNA sequence differences between individuals.
Most variants are benign; only some are disease-causing.
SNV, indel, CNV, repeats, structural variants.
Interpretation per ACMG guidelines.
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Gene Negar Ayandegan · What is a Genetic Variant?