Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000909725 | SCV001054544 | likely benign | not provided | 2018-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000909725 | SCV002817703 | uncertain significance | not provided | 2022-07-01 | 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 |