Article
Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.
Ear and hearing - 1 Jan 2025
Scaria Sonia M, Harris Jacqueline, Ismail Mohamad Noura, Taketa Emily, Park Yesai, Chan Dylan K
Abstract excerpt
OBJECTIVES: Underrepresented minority (URM, comprising Hispanic, non-Hispanic Black, and Native American) children with sensorineural hearing loss have fivefold lower odds of receiving a genetic diagnosis after undergoing hearing loss gene-panel testing. Using hearing loss-specific American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines applied to a URM-specific cohort...
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