Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002251754 | SCV003798879 | likely pathogenic | not provided | 2023-01-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34341188, 28333917, 33929620, 32663648, 27527004, 35710456, 31257402) |
OMIM | RCV000808204 | SCV000948300 | pathogenic | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 2019-08-09 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV002251754 | SCV002522493 | uncertain significance | not provided | no assertion criteria provided | clinical testing |