Facts and Figures
Cases Submitted
Cases received: 8494
Cases under review: 259
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 3547
Participants diagnosed: 976
Participants with exome sequencing completed: 501
Participants with genome sequencing completed: 2202
Participants with RNA sequencing completed: 792
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 527
Data Sharing
Manuscripts published: 326
Variant interpretations submitted to ClinVar: 999
Records shared across Matchmaker Exchange: 2584
Participant pages published on UDN website: 233
Last updated: January 20, 2026 (data through January 1, 2026)
Please note: family members are not included in these calculations. The number of cases received does not include cases that were withdrawn. Some of the participants diagnosed have not received telehealth, in-person, or additional research evaluations.