Facts and Figures
Applications
Applications received: 6773
Applications under review: 251
Participants accepted: 2696
Evaluations
Participants evaluated: 2305
Participants diagnosed: 697
Participants with exome sequencing complete: 469
Participants with genome sequencing complete: 1771
Participants with RNA sequencing complete: 691
Participants with metabolomic analyses completed: 330
Variants evaluated by the Model Organisms Screening Center: 471
Data Sharing
Manuscripts published: 246
Variant interpretations submitted to ClinVar: 688
Records shared across Matchmaker Exchange: 2063
Participant pages published on UDN website: 214
Last updated: October 2nd, 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 The number of applications received does not include applications that were withdrawn.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.