Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202726 | SCV000258098 | uncertain significance | not specified | 2015-06-08 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000577881 | SCV000583483 | pathogenic | Intellectual disability | 2017-07-03 | no assertion criteria provided | research | |
OMIM | RCV000678212 | SCV000804214 | pathogenic | Intellectual disability, autosomal dominant 53 | 2022-04-07 | no assertion criteria provided | literature only |