Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000578165 | SCV004099182 | pathogenic | CHARGE association | 2023-09-27 | criteria provided, single submitter | clinical testing | PVS1, PS4_Moderate, PM2, PM6 |
Sbielas Lab- |
RCV000578165 | SCV000680041 | pathogenic | CHARGE association | 2017-10-27 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000578165 | SCV001197947 | likely pathogenic | CHARGE association | no assertion criteria provided | research |