Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000787314 | SCV000864216 | likely pathogenic | Microphthalmia-ankyloblepharon-intellectual disability syndrome | 2019-01-14 | criteria provided, single submitter | research | |
OMIM | RCV001215739 | SCV001387500 | pathogenic | Lenz microphthalmia syndrome | 2020-07-10 | no assertion criteria provided | literature only |