Clinical Variant Scientist

Machaon Diagnostics; Berkeley (CA); Remote; USD 83,000 - 124,000; Part time

Benefits offered by this job

Flexible hours

Remote work

Collaborative team environment

Job summary

A specialized clinical reference laboratory in California is seeking a part-time Clinical Variant Scientist to support their genetics program. The role is remote and involves variant interpretation, report drafting, and assay development. Ideal candidates should have an MSc or PhD in Genetics or related fields, with experience in clinical variant interpretation. The position offers flexible hours and the chance to contribute to meaningful diagnostics.

Qualifications

• 1–3+ years experience in clinical variant interpretation.
• Experience with rare disease and immune dysregulation is preferred.

Responsibilities

• Review NGS data, QC metrics, and annotation outputs.
• Draft clear, concise clinical reports.
• Support new assay development and validation.
• Maintain and update internal variant knowledge bases.
• Support new assay development and validation.
• Ensure compliance with CLIA/CAP standards and SOPs.

Skills

Clinical variant interpretation

Reviewing NGS data

Curating variants

Clinical Variant Interpretation

Education

MSc or PhD in Genetics, Genomics, Molecular Biology

Tools

ClinVar

gnomAD

HGMD

Job description

Clinical Variant Scientist (Part‑Time, Remote)

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

• 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

• MSc or PhD in Genetics, Genomics, Molecular Biology, or related field
• 1–3+ years experience in clinical variant interpretation

Preferred

• Experience with rare disease, immune dysregulation, or complement biology
• Prior work in a CLIA/CAP-accredited lab

What We Offer

• Part‑time remote role (approx. 10 hrs/week)
• Opportunity to contribute to innovative rare‑disease diagnostics
• Supportive and collaborative team environment

How to Apply

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

Subject: Clinical Variant Scientist – Part‑Time