Facts and Figures
Applications
Applications received: 5882
Applications under review: 268
Participants accepted: 2354
Evaluations
Participants evaluated: 1946
Participants diagnosed: 576
Participants with exome sequencing complete: 468
Participants with genome sequencing complete: 1470
Participants with RNA sequencing complete: 570
Participants with metabolomic analyses complete: 247
Variants evaluated by the Model Organisms Screening Center: 418
Data Sharing
Manuscripts published: 180
Variant interpretations submitted to ClinVar: 595
Records shared across Matchmaker Exchange: 1845
Participant pages published on UDN website: 201
Last updated: July 8, 2022
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 The number of applications received does not include applications that were withdrawn.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.