Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623357 | SCV000742423 | uncertain significance | Inborn genetic diseases | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002469221 | SCV002765452 | uncertain significance | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |