Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Translational Medicine Center of Children Development and Disease, |
RCV000824809 | SCV000886502 | pathogenic | CHARGE association | 2018-12-31 | criteria provided, single submitter | clinical testing | This stop-gained (c.7222G>T) variant is de novo causing protein truncation. The phenotype of this patient match the Blake's CHARGE syndrome diagnostic criteria. |