Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV001215739 | SCV000864216 | likely pathogenic | Microphthalmia, syndromic 1 | 2019-01-14 | criteria provided, single submitter | research | |
Gene |
RCV001840731 | SCV002099630 | uncertain significance | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing | Reported in an individual with spina bifida and dysmorphic features in the published literature (Johnston et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30842225) |
OMIM | RCV001215739 | SCV001387500 | pathogenic | Microphthalmia, syndromic 1 | 2020-07-10 | no assertion criteria provided | literature only |