Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV001215735 | SCV000864214 | likely pathogenic | Microphthalmia, syndromic 1 | 2019-01-14 | criteria provided, single submitter | research | |
OMIM | RCV001215735 | SCV001387496 | pathogenic | Microphthalmia, syndromic 1 | 2020-07-10 | no assertion criteria provided | literature only |