Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Al Jalila Children's Genomics Center, |
RCV002508782 | SCV002818193 | pathogenic | not provided | 2022-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002508782 | SCV004170912 | pathogenic | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35046037, 33423168, 27182967, 28346228, 29266745) |
OMIM | RCV000239516 | SCV000297952 | pathogenic | MIRAGE syndrome | 2020-12-10 | no assertion criteria provided | literature only |