Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000074466 | SCV000108482 | pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2012-12-15 | no assertion criteria provided | literature only | |
Gene |
RCV000074466 | SCV000258993 | not provided | Complex cortical dysplasia with other brain malformations 7 | no assertion provided | literature only | Congenital fibrosis of the extraocular muscles (CFEOM) | |
University of Washington Center for Mendelian Genomics, |
RCV001291304 | SCV001479776 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |