Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533534 | SCV000656659 | likely benign | 3-methylglutaconic aciduria, type VIIB | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002245016 | SCV002513112 | uncertain significance | not provided | 2022-12-21 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ce |
RCV002245016 | SCV004137233 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CLPB: BS1 |