Facts and Figures
Applications
Applications received: 2622
Applications under review: 338
Participants accepted: 1131
Evaluations
Participants evaluated: 841
Participants diagnosed: 221
Participants with exome or genome sequencing complete: 802
Participants with metabolomic analyses complete: 125
Participants with variants studied by the Model Organisms Screening Center: 103
Participants with samples in the Central Biorepository: 608
Data Sharing
Manuscripts published: 34
ClinVar submissions: 164
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 683
Last updated: July 30, 2018
Note: only proband data is reported here