Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000258114 | SCV000328348 | pathogenic | CHARGE association | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Sbielas Lab- |
RCV000258114 | SCV000680044 | pathogenic | CHARGE association | 2017-10-27 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000258114 | SCV001197950 | likely pathogenic | CHARGE association | no assertion criteria provided | research |