Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Department, |
RCV001269468 | SCV001449121 | likely pathogenic | Microphthalmia, syndromic 12 | 2020-11-26 | criteria provided, single submitter | clinical testing | PM2, PP2, PP3 |