Facts and Figures
Applications
Applications received: 5124
Applications under review: 321
Participants accepted: 2035
Evaluations
Participants evaluated: 1618
Participants diagnosed: 484
Participants with exome and/or genome sequencing complete: 1468
Participants with metabolomic analyses complete: 204
Participants with samples in the Central Biorepository: 1080
Variants evaluated by the Model Organisms Screening Center: 345
Data Sharing
Manuscripts published: 143
ClinVar submissions: 527
Participants with data available in dbGaP: 1216
Participants with data submitted to PhenomeCentral: 1505
Last updated: July 12, 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 The number of applications received does not include applications that were withdrawn.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.