Facts and Figures
Applications
Applications received: 6376
Applications under review: 227
Participants accepted: 2535
Evaluations
Participants evaluated: 2165
Participants diagnosed: 653
Participants with exome sequencing complete: 469
Participants with genome sequencing complete: 1663
Participants with RNA sequencing complete: 651
Participants with metabolomic analyses complete: 322
Variants evaluated by the Model Organisms Screening Center: 455
Data Sharing
Manuscripts published: 210
Variant interpretations submitted to ClinVar: 647
Records shared across Matchmaker Exchange: 1991
Participant pages published on UDN website: 211
Last updated: April 6th, 2023
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 The number of applications received does not include applications that were withdrawn.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.