Genetic Variant Classification Hero
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Variant Classification

Combining advanced technology with expert insight to classify genetic variants, bringing clarity to patient care decisions.

Scientific Rigor Drives Genetic Variant Classification

Our proprietary variant classification scheme is grounded in ACMG guidelines and shaped by Ambry’s innovation, expertise and progressive implementation.

What Sets Our Variant Classification Apart

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Proprietary Bioinformatics

Ambry’s proprietary in-house bioinformatics and reporting tools seamlessly integrate with our extensive genetics and phenotype knowledge databases, which are regularly updated to reflect evolving evidence. This ensures every analysis we conduct is informed by a vast repository of genetic insights reflecting the most current advancements in the field.

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Interdisciplinary Team

Our collaborative team of experts is comprised of MD and PhD laboratory directors, biostatisticians, bioinformaticians, structural biologists, variant scientists, research scientists, as well as board-certified genetic counselors. This reflects a diverse set of skills, expertise, and knowledge across the team.

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Specialized Expertise

Ambry’s teams apply diversified knowledge essential to accurate variant classification, including in nonsense-mediated decay, protein modeling, RNA analysis, and splicing. Internal expert panels focus on therapeutic areas for oncology, cardiology, and neurology, broadening the knowledge base. These groups collaborate closely to utilizing gene-disease specific guidelines and criteria with a deep knowledge in variant classification.

Educational Webinars

Diagnosis: Detecting pathogenic variants beyond standard multigene panel sequencing
with Elizabeth Chao, M.D., FACMG
Thursday, September 21, 2023
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit
Watch Now
Considerations of Disease Specific Criteria for Variant Classification on Cardiogenetic Panels
with Meghan Towne, MS, CGC, LCGC
Thursday, September 7, 2023
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit
Watch Now
Recommendations for Next-Generation Sequencing Germline Variant Confirmation
with Kristy R. Crooks, Ph.D., FACMG
Thursday, July 13, 2023
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit
Watch Now
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  2. Tavtigian SV et al. Fitting a naturally scaled point system to the ACMG/AMP variant 1( guidelines. Hum Mutat. 2020 Oct;41(10):1734-1737.
  3. Bean LJH, et al. Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Feb;22(2):453-461.
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