Researcher Registry

  • 304 registry profiles
  • 7080 Human genes represented
  • 2361 Primary or secondary focus genes
  • ~960 Novel genes
  • ~1100 Known disease genes

Clinical Submissions

  • 33 patient applications submitted
  • 6 novel genes
  • 6 phenotype expansion of a known disease
  • 21 VUS in known disease gene
  • 26 patient applications approved by the Clinical Review Committee

Projects

  • 9 genes matched to a research team
  • 10 project proposals approved by the Scientific Review Committee
  • $405,000 in funding allocated