Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000369234 | SCV000330518 | pathogenic | not provided | 2023-05-31 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20473311, 33504798, 35118825) |
Clinical Genetics and Genomics, |
RCV000369234 | SCV001449653 | likely pathogenic | not provided | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000369234 | SCV001962628 | likely pathogenic | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001251779 | SCV001427521 | likely pathogenic | Intellectual disability, X-linked 1 | 2019-01-01 | no assertion criteria provided | clinical testing |