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.

Workflow

Sample Variants

Figure 3
NARS2 variants

ACMG59 Genes Variant Analysis

STRING analysis of ACMG59 gene list
STRING analysis of ACMG59 gene list
ClinVar annotations of variants
ClinVar annotations of variants