Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995689 | SCV001150001 | likely pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001544716 | SCV001763899 | likely pathogenic | not provided | 2024-08-12 | criteria provided, single submitter | clinical testing | In-frame deletion of two amino acids and insertion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30401461) |