Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Otorhinolaryngology Lab - |
RCV001729954 | SCV001792235 | pathogenic | Waardenburg syndrome type 4C | criteria provided, single submitter | research | de novo variant: proband with bilateral profound sensorineural hearing loss, total heterochromia irides, chronic intestinal obstruction, congenital megacolon was suspected at birth not confirmed |