Facts and Figures
Applications
Applications received: 5700
Applications under review: 366
Participants accepted: 2246
Evaluations
Participants evaluated: 1873
Participants diagnosed: 549
Participants with exome and/or genome sequencing complete: 1692
Participants with metabolomic analyses complete: 244
Participants with samples in the Central Biorepository: 1139
Variants evaluated by the Model Organisms Screening Center: 383
Data Sharing
Manuscripts published: 175
ClinVar submissions: 572
Participants with data available in dbGaP: 1319
Participants with data submitted to PhenomeCentral: 1736
Last updated: April 5, 2022
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 The number of applications received does not include applications that were withdrawn.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.