Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733297 | SCV000861345 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733297 | SCV001999304 | uncertain significance | not provided | 2019-10-30 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 |
Fulgent Genetics, |
RCV002477726 | SCV002779029 | uncertain significance | Polycystic kidney disease 4 | 2022-01-19 | criteria provided, single submitter | clinical testing |