Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174513 | SCV000225825 | uncertain significance | not provided | 2015-02-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174513 | SCV002107249 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |