Facts and Figures
Applications
Applications received: 7689
Applications under review: 254
Participants accepted: 3094
Evaluations
Participants evaluated: 2740
Participants diagnosed: 855
Participants with exome sequencing completed: 472
Participants with genome sequencing completed: 2002
Participants with RNA sequencing complete: 733
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 503
Data Sharing
Manuscripts published: 296
Variant interpretations submitted to ClinVar: 889
Records shared across Matchmaker Exchange: 2539
Participant pages published on UDN website: 229
Last updated: January 2nd, 2025
Please note: family members are not included in these calculations. The number of applications received does not include applications that were withdrawn. Some of the participants diagnosed have not been evaluated. These participants are not included in the number of participants evaluated.