Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV000789039 | SCV000928380 | likely pathogenic | Stickler syndrome, type I, nonsyndromic ocular | 2018-10-10 | criteria provided, single submitter | clinical testing | PM1, PM2, PP2, PP3 |