Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Division, |
RCV000727544 | SCV000854423 | pathogenic | Intellectual disability, X-linked 21 | 2015-03-01 | flagged submission | research | This patient has a translocation in which the X-chromosome breakpoint disrupts the IL1RALP1 gene. Her phenotype includes intellectual disability that overlaps partially with the patients described in Youngs, et al. 2012 (PMID: 21933724). |
Genetics Division, |
RCV003334392 | SCV000854424 | uncertain significance | not specified | 2015-03-01 | no assertion criteria provided | research | This patient has a translocation in which the chromosome 19 breakpoint disrupts the ZNF611 gene. Her phenotype includes intellectual disability, however this gene is not related to this phenotype. |