Facts and Figures
Cases Submitted
Cases received: 8967
Cases under review: 266
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 3822
Participants diagnosed: 1054
Participants with exome or genome sequencing completed: 2594
Participants with RNA sequencing completed: 851
Variants evaluated by the Model Organisms Screening Center: 545
Data Sharing
Manuscripts published: 343
Variant interpretations submitted to ClinVar: 1074
Records shared across Matchmaker Exchange: 2584
Participant pages published on UDN website: 233
Last updated: July 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 The number of cases received does not include cases that were withdrawn.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.