Facts and Figures
Cases Submitted
Cases received: 8252
Cases under review: 250
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 3406
Participants diagnosed: 941
Participants with exome sequencing completed: 472
Participants with genome sequencing completed: 2096
Participants with RNA sequencing completed: 789
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 526
Data Sharing
Manuscripts published: 316
Variant interpretations submitted to ClinVar: 939
Records shared across Matchmaker Exchange: 2539
Participant pages published on UDN website: 232
Last updated: September 11, 2025
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 The number of cases received does not include cases that were withdrawn.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.