Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000348365 | SCV000338952 | uncertain significance | not provided | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000348365 | SCV001996124 | uncertain significance | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |