Clinical Variant Scientist

Clinical Variant Scientist

Title : Clinical Variant Scientist (Part-Time, Remote)

Company : Machaon Diagnostics

Location : Remote

Employment Type : Part-Time (10 hrs / week)

About Us

Machaon Diagnostics is a specialized clinical reference laboratory and CRO focused on hematology, immunology and rare disease diagnostics. We support physicians, hospitals, and pharma / biotech partners by delivering fast, high-quality molecular and functional testing. Our genetics program includes next-generation sequencing assays, somatic and germline variant interpretation, and the development of innovative assays in complement biology, immune dysregulation, and related pathways.

About the Role

Machaon Diagnostics is seeking a part-time, remote Clinical Variant Scientist to support our growing genetics program focused on rare disease, immunology, hematology, and complement biology. You'll play a key role in variant interpretation, report drafting, and assay-development support.

This role offers flexible hours, remote work, and meaningful impact in clinical diagnostics.

What You'll Do

• Interpret germline and / or somatic variants using ACMG / AMP guidelines
• Review NGS data, QC metrics, and annotation outputs
• Curate variants using ClinVar, gnomAD, HGMD, and related databases
• Draft clear, concise clinical reports
• Maintain and update internal variant knowledge bases
• Support new assay development and validation
• Ensure compliance with CLIA / CAP standards and SOPs

What We're Looking For

Required :

Preferred :

What We Offer

How to Apply

Submit your CV and a brief note about your variant-interpretation experience to :

james.kain at machaondiagnostics.com

Subject : Clinical Variant Scientist – Part-Time