Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomics England Pilot Project, |
RCV001542712 | SCV001760489 | pathogenic | Autosomal recessive Parkinson disease 14 | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003319301 | SCV004023584 | likely pathogenic | not provided | 2023-01-30 | 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: 16783378, 18443314, 32581362, 34758253) |
OMIM | RCV000006573 | SCV000026756 | pathogenic | Neurodegeneration with brain iron accumulation 2B | 2006-07-01 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003639 | SCV001162066 | pathogenic | Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression | no assertion criteria provided | research |