ClinVar is a public archive of information submitted by genetic testing labs on the relationships between medically important genetic variants and their clinical characteristics found in patients. Now, all published variants, pathogenicity interpretations, and other key information within ClinVar’s database are included as part of Mastermind’s comprehensive body of evidence.
This new integration means that clinical users can keep their workflow contained within a single easily searchable interface. By streamlining variant interpretation in this way, Mastermind accelerates diagnosis and enriches clinical reporting with actionable insights not found in ClinVar.
Join Genomenon’s chief scientific officer Mark Kiel, MD, PhD, and program quality manager, Anna McGill, MS GC, for a live discussion and Q&A session.
You will learn:
- How to streamline variant interpretation workflow within a single easily searchable interface
- How to access all the scientific evidence for a variant required to support diagnostic decisions
- The value of examining cited evidence from the medical literature when interpreting variants
Mark Kiel, MD, PhD, Chief Scientific Officer
Mark is the chief scientific officer at Genomenon, where he oversees the company’s scientific direction and product development.
Anna McGill, MS GC, Program Quality Manager
Anna has spent her training and early career helping patients to understand their genetic diagnoses and the health risks associated with those diagnoses. This effort continues at Genomenon, where she supervises a team of quality assurance specialists reviewing the curated variant data in our pursuit of full curation of the human genome.
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