Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553375 | SCV000659429 | benign | Adams-Oliver syndrome 5 | 2022-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002281111 | SCV002569754 | uncertain significance | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | Has been reported as a variant of uncertain significance in a patient with BAV and TAAD (Proost et al., 2015); 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; This variant is associated with the following publications: (PMID: 25907466) |