Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788602 | SCV000927771 | uncertain significance | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788602 | SCV003936656 | uncertain significance | not provided | 2022-12-29 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |