Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375370 | SCV001571753 | likely pathogenic | Pendred syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PM3_Supporting, PP3_Supporting, PP4_Supporting |