Facts and Figures
Cases Submitted
Cases received: 7689
Cases under review: 254
Evaluations
Participants receiving telehealth, in-person, or additional research evaluations: 2740
Participants diagnosed: 855
Participants with exome sequencing completed: 472
Participants with genome sequencing completed: 2002
Participants with RNA sequencing complete: 733
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 503
Data Sharing
Manuscripts published: 296
Variant interpretations submitted to ClinVar: 889
Records shared across Matchmaker Exchange: 2539
Participant pages published on UDN website: 229
Last updated: January 2nd, 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 The number of cases received does not include cases that were withdrawn.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.