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