Facts and Figures
Applications
Applications received: 6194
Applications under review: 247
Participants accepted: 2457
Evaluations
Participants evaluated: 2103
Participants diagnosed: 627
Participants with exome sequencing complete: 469
Participants with genome sequencing complete: 1608
Participants with RNA sequencing complete: 611
Participants with metabolomic analyses complete: 301
Variants evaluated by the Model Organisms Screening Center: 449
Data Sharing
Manuscripts published: 194
Variant interpretations submitted to ClinVar: 616
Records shared across Matchmaker Exchange: 1969
Participant pages published on UDN website: 209
Last updated: January 4th, 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 The number of applications received does not include applications that were withdrawn.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.