Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002612559 | SCV003512560 | benign | Adams-Oliver syndrome 5 | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003128961 | SCV003805001 | uncertain significance | not provided | 2022-08-26 | criteria provided, single submitter | clinical testing | 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 |