Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597245 | SCV000704603 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597245 | SCV001991332 | uncertain significance | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this missense substitution does not alter protein structure/function; However, in silico analysis using splice predictors is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000597245 | SCV003826337 | likely benign | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing |