Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Center for Pediatric Liver Diseases, |
RCV000993655 | SCV001146787 | pathogenic | Cholestasis, progressive familial intrahepatic, 4 | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375126 | SCV001572087 | likely pathogenic | Melnick-Fraser syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | PS1_Strong, PM2_Moderate |