Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sbielas Lab- |
RCV000578180 | SCV000680059 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2017-10-27 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001034552 | SCV001197917 | likely pathogenic | CHARGE association | no assertion criteria provided | research |