Facts and Figures
Cases Submitted
Cases received: 8725
Cases under review: 262
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 3687
Participants diagnosed: 1017
Participants with exome or genome sequencing completed: 2542
Participants with RNA sequencing completed: 800
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 534
Data Sharing
Manuscripts published: 335
Variant interpretations submitted to ClinVar: 1003
Records shared across Matchmaker Exchange: 2584
Participant pages published on UDN website: 233
Last updated: April 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 The number of cases received does not include cases that were withdrawn.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.