Facts and Figures
Cases Submitted
Cases received: 7879
Cases under review: 253
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 3195
Participants diagnosed: 886
Participants with exome sequencing completed: 472
Participants with genome sequencing completed: 2064
Participants with RNA sequencing complete: 777
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 511
Data Sharing
Manuscripts published: 303
Variant interpretations submitted to ClinVar: 911
Records shared across Matchmaker Exchange: 2539
Participant pages published on UDN website: 230
Last updated: April 1, 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 The number of cases received does not include cases that were withdrawn.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.