Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612658 | SCV000721666 | likely benign | not specified | 2017-08-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000652440 | SCV000774310 | likely benign | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2023-04-25 | criteria provided, single submitter | clinical testing |