Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187674 | SCV000241271 | pathogenic | not provided | 2022-04-08 | 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29655203, 30544257, 35228668, 27839871, 34726335) |
Institute of Human Genetics, |
RCV001781553 | SCV002026436 | likely pathogenic | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | research |