Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171308 | SCV000221505 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Gene |
RCV000171308 | SCV000237848 | likely benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV000171308 | SCV003820139 | uncertain significance | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing |