Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Division, |
RCV000727546 | SCV000854425 | likely pathogenic | Periventricular nodular heterotopia 7 | 2016-05-01 | no assertion criteria provided | research | This patient has a translocation in which the chromosome 4 breakpoint disrupts the PCDH10 gene. Her phenotype includes intellectual disability and congenital malformations. |