Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hearing and Balance Clinic, |
RCV000985243 | SCV001132683 | pathogenic | Waardenburg syndrome type 2E | 2019-12-26 | no assertion criteria provided | clinical testing | The proband was a 4-year-old boy who suffered from congenital bilateral profound hearing loss. He was delivered full-term with a bilateral blue iris and normal inner canthi. |