Clinical Variant Workflow

Working with Clinical and Genetics teams, we assist in the characterization of Variants of Unknown Significance (VUS) and Genes of Uncertain Disease Significance (GUDS) to help make a diagnosis and ways to improve clinical care. Our current workflow is shown below.

Sample Variants

MED13

NARS2

ACMG59 Genes Variant Analysis

STRING analysis of ACMG59 gene list

ClinVar annotations of variants