Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV002272192 | SCV002556463 | pathogenic | Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2020-06-17 | criteria provided, single submitter | clinical testing | The GJA3 c.56C>T variant is classified as Pathogenic (PS3, PM2, PP3, PP4, PP1_Strong) |
Department of Ophthalmology, |
RCV000490765 | SCV000297746 | pathogenic | Developmental cataract | 2016-07-29 | no assertion criteria provided | clinical testing | |
Dept. |
RCV000490765 | SCV001573166 | likely pathogenic | Developmental cataract | 2021-05-01 | no assertion criteria provided | research |