Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hearing and Balance Clinic, |
RCV000984878 | SCV001132682 | pathogenic | Waardenburg syndrome type 1 | 2019-12-26 | no assertion criteria provided | clinical testing | The proband was a 1-year-old girl who suffered from congenital bilateral profound hearing loss.Her mother was exhibited bilateral blue iris. Calculated W index of the proband was 2.39 and that of her mother was 2.31(both were over 1.95) |