Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660636 | SCV000782759 | uncertain significance | Intellectual disability, X-linked 99 | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002266998 | SCV002549634 | uncertain significance | not provided | 2023-09-19 | 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: 33144682, 31443933) |