Variant Curator - Genetics & Genomic Sciences

Responsibilities

• Curate and interpret variants from WES/WGS data for approximately 50 cases per year using established guidelines and evidence-based resources
• Apply ACMG/AMP guidelines for variant classification and leverage population, clinical, and functional data to assess variant pathogenicity
• Document variant evidence and classification rationale clearly and reproducibly
• Present prioritized variants and supporting evidence at one internal case review meeting per month to multidisciplinary clinical team for discussion and review
• Engage in collaborative discussion with clinical geneticists, genetic counselors, researchers, and subspecialists to refine variant classifications and recommendations
• Perform additional duties as requested

Qualifications

• Advanced degree (MS, PhD, MD, or equivalent experience) in genetics, genomics, molecular biology, or related field
• Demonstrated experience in clinical or research-based variant interpretation
• Familiarity with ACMG/AMP variant classification guidelines, use of genomic databases (e.g., ClinVar, gnomAD), and in-silico tools
• Preferred: Experience with rare disease genomics, undiagnosed disease programs, or variant curation in a clinical or research laboratory environment

About the Role

The Variant Curator supports genomic analysis for patients with complex, unsolved medical conditions. The position involves close collaboration with the Mount Sinai Center for Undiagnosed Diseases clinical team and presenting prioritized findings at monthly internal case review meetings.

Employer Description

The Mount Sinai Health System is committed to fostering an environment where everyone can contribute to excellence. We share a common dedication to delivering outstanding patient care. Join us and be part of the next chapter in our history.

Compensation

The salary range for the role is $40.7701 - $61.1552 Hourly. Actual salaries depend on a variety of factors, including experience, education, and operational need.