Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000210403 | SCV000258448 | likely pathogenic | Cerebral visual impairment and intellectual disability | 2015-09-09 | criteria provided, single submitter | research | This study shows that diverse genetic causes underlie CVI. |
Gene |
RCV000522084 | SCV000618453 | pathogenic | not provided | 2022-11-17 | 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: 26350515, 27087320) |
Ambry Genetics | RCV001265937 | SCV001444109 | likely pathogenic | Inborn genetic diseases | 2018-08-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000225351 | SCV000282055 | pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2018-01-08 | no assertion criteria provided | literature only |