Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735394 | SCV000854549 | uncertain significance | Global developmental delay; Motor delay; Seizure; Abnormal corpus callosum morphology; Exotropia; Polymicrogyria; Generalized hypotonia; Delayed gross motor development; Gray matter heterotopia; Abnormal cerebral white matter morphology; Polyphagia; Unilateral polymicrogyria; Infantile spasms | criteria provided, single submitter | clinical testing | ||
Gene |
RCV004723150 | SCV005333211 | pathogenic | not provided | 2023-06-29 | 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: 26986877, 30755392) |