Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Translational Medicine Center of Children Development and Disease, |
RCV000758255 | SCV000886505 | pathogenic | CHARGE association | 2018-12-31 | criteria provided, single submitter | clinical testing | The stop-gained variant is a de novo variant causing protein truncation. The patient's phenotype matched the Blake's criteria of CHARGE syndrome. |