Hearing-loss variant reportedly reclassified as 'likely pathogenic' after EVEE analysis

GoodfireAI says its interpretability system EVEE scored all 4.2 million variants in ClinVar, an NIH variant database, in April. After MEPE c.209_212del scored particularly high, the company says it built a case and had the hearing-loss variant reclassified as 'likely pathogenic.' GoodfireAI says roughly 2 million variants remain 'uncertain' and believes interpretability could help clarify many more.