Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000351681 | SCV000336854 | uncertain significance | not provided | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000351681 | SCV001785332 | likely benign | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; 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 |
Revvity Omics, |
RCV000351681 | SCV004234351 | uncertain significance | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing |