Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241489 | SCV001414512 | likely benign | Adams-Oliver syndrome 5 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003313198 | SCV004012531 | uncertain significance | not provided | 2023-01-05 | 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 |