Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003322832 | SCV004028441 | pathogenic | not provided | 2023-08-16 | 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: 36212160, 31256877, 36211162) |
Lupski Lab, |
RCV000853105 | SCV000995960 | likely pathogenic | Seizure; Intellectual disability; Neurodevelopmental delay | 2019-05-30 | no assertion criteria provided | research | |
OMIM | RCV000991228 | SCV001142624 | pathogenic | Neuromuscular disease and ocular or auditory anomalies with or without seizures | 2020-07-14 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001261677 | SCV001438982 | likely pathogenic | Neurodevelopmental disorders | no assertion criteria provided | research |