Facts and Figures
Applications
Applications received: 4923
Applications under review: 303
Participants accepted: 1956
Evaluations
Participants evaluated: 1525
Participants diagnosed: 467
Participants with exome and/or genome sequencing complete: 1394
Participants with metabolomic analyses complete: 189
Participants with samples in the Central Biorepository: 1080
Variants evaluated by the Model Organisms Screening Center: 338
Data Sharing
Manuscripts published: 124
ClinVar submissions: 493
Participants with data available in dbGaP: 1216
Participants with data submitted to PhenomeCentral: 1452
Last updated: April 7, 2021
Please note: family members are not included in these calculations. The number of applications received does not include applications that were withdrawn. Some of the participants diagnosed have not been evaluated. These participants are not included in the number of participants evaluated.