Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216411 | SCV001388208 | likely benign | ALG9 congenital disorder of glycosylation | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760196 | SCV002000081 | uncertain significance | not provided | 2020-10-22 | 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 |