We are proud to announce the release of our Epilepsy Panel: a carefully curated set of 258 genes now available in Mastermind. This panel was designed with purpose - to align with major commercial epilepsy panels, while going deeper on what truly matters: clinically actionable evidence.

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In a field where speed, accuracy, and confidence are critical, our goal is simple: empower clinicians, researchers, and testing laboratories with better genomic intelligence to improve outcomes for people living with epilepsy.

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Why This Matters

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Epilepsy is one of the most genetically complex neurological conditions, with hundreds of genes implicated across diverse syndromes and clinical presentations. For clinicians, that complexity can translate into long diagnostic odysseys and uncertain treatment paths. For laboratories, it means difficult choices in panel design, variant curation, and reporting.

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Our epilepsy panel addresses these challenges head-on:

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• High clinical relevance: Built in alignment with major commercial panels to ensure maximum overlap with what testing laboratories already use.

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• Comprehensive curation: Every gene has been reviewed and sourced directly from the published literature, with evidence evaluated by experts.

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By delivering coverage that is both broad and evidence-backed, we make it possible to move beyond possible association and toward actionable clarity.

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Mastermind vs. ClinVar: Where Actionability Lives

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When it comes to variant interpretation, the question isn’t just how many variants - it’s which ones change decisions.

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The signal advantage

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• 51% of Mastermind-actionable variants are missing from ClinVar or not classified as actionable there.
  You get decision-ready evidence that may never surface in a ClinVar-only workflow.

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• Of the variants actionable in Mastermind but not actionable in ClinVar, 72% are not in ClinVar at all.
  Mastermind contributes entirely new, literature-supported signals you won’t retrieve from ClinVar.

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From Complexity to Clarity

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• Fewer blind spots. ClinVar’s breadth includes many unpublished/benign calls; Mastermind concentrates on literature-backed, clinically relevant evidence.

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• Higher interpretive confidence. Actionable, expertly curated variants reduce re-review cycles and speed time to report.

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• Better alignment to care. The variants surfaced are the ones most likely to inform diagnosis, therapy selection, or trial eligibility.

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ClinVar provides breadth. Mastermind provides depth and precision - the actionable signal that moves a case from uncertainty to a clear recommendation.

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Trust You Can Build On

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Accuracy in variant classification isn’t optional - it’s essential. Our epilepsy panel is curated under rigorous standards to ensure that confidence:

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• ACMG guidelines are applied consistently across all curations.

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• gnomAD population data and REVEL predictive scores are integrated to provide context.

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• Above all, every call is supported by expert-reviewed literature evidence, ensuring that conclusions are based on what’s been discovered and validated in the scientific community.

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How do we compare?

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For variants classified as pathogenic or likely pathogenic, where ClinVar also provides a classification, we see an 80.4% concordance rate. This matches published benchmarks, underscoring the reliability of our approach.

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Where differences do exist, they are often due to newer publications, additional evidence, or methodological differences in applying ACMG criteria. Far from being a weakness, these differences highlight the value of ongoing expert curation - ensuring that our users always benefit from the latest knowledge.

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What This Means for the Community

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By combining industry-aligned gene coverage with evidence-based variant classification, the Mastermind Epilepsy Panel creates value across the ecosystem:

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• Clinical laboratories can boost diagnostic yield, reduce uncertainty, and increase confidence in reporting.

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• Researchers gain access to more reliable data to accelerate discovery, uncover new associations, and design stronger clinical trials.

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• Clinicians can make faster, more informed treatment decisions for patients and their families.

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Ultimately, this release isn’t just about a panel. It’s about shortening diagnostic journeys, strengthening scientific discovery, and most importantly, bringing clarity to care for patients with epilepsy.

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✨Epilepsy is complex. Interpretation doesn’t have to be. With our new epilepsy panel, you can move from uncertainty to action - faster, and with more confidence.

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