Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002260674 | SCV002540435 | likely pathogenic | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11058895, 32581362, 16009061, 10527672, 11156536) |
NIHR Bioresource Rare Diseases, |
RCV001003992 | SCV001162018 | likely pathogenic | Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus | no assertion criteria provided | research | ||
NIHR Bioresource Rare Diseases, |
RCV001003993 | SCV001162019 | likely pathogenic | Cerebellar ataxia | no assertion criteria provided | research |