Genetic Product Quality Specialist, Variant Interpretation

Role Overview

• Perform complex and high-priority variant interpretation, including cases with conflicting clinical and functional evidence
• Apply ACMG/AMP guidelines to ensure accurate, consistent, and defensible classifications
• Evaluate clinical and functional literature to support interpretation decisions
• Ensure interpretations are clinically relevant and aligned with real-world use cases
• Contribute to high-impact client deliverables across clinical and pharmaceutical contexts
• Apply QA/QC standards across variant interpretation workflows
• Ensure consistent use of internal frameworks, HGVS nomenclature, and interpretation criteria
• Support data quality efforts, including review of external data (e.g., ClinVar) and discrepancy identification
• Contribute to refinement of SOPs, QA processes, and workflows
• Identify quality gaps or inconsistencies and propose improvements
• Support scalable approaches to interpretation as volume and complexity grow

Requirements

• 5+ years of hands-on variant interpretation experience in a clinical or equivalent setting
• Advanced degree (PhD, MS in Genetics/Genomics) or Genetic Counselor (CGC)
• Deep expertise applying ACMG/AMP guidelines in complex scenarios
• Strong experience evaluating clinical and functional evidence from scientific literature
• Proficiency in HGVS nomenclature, including normalization and variant disambiguation
• Demonstrated ability to make independent, high-confidence scientific decisions
• Ability to work up to 20-hours per week in a remote-first environment (hours will fluctuate based on business volumes)

Benefits

• Flexible, High-Impact Work
• Make a Real Impact
• Tackle Meaningful Complexity