Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000626037 | SCV000746652 | likely pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2016-10-17 | criteria provided, single submitter | clinical testing | This individual has been reported in PMID: 29330883 (subject 5). |
Daryl Scott Lab, |
RCV000626037 | SCV000808917 | pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003128667 | SCV003805512 | pathogenic | not provided | 2023-02-24 | 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: 29330883) |
OMIM | RCV000626037 | SCV002520461 | pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2022-04-19 | no assertion criteria provided | literature only |