Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827714 | SCV000969373 | likely benign | not provided | 2018-04-06 | 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 | RCV001796260 | SCV001001158 | likely benign | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264025 | SCV002543437 | uncertain significance | Autoinflammatory syndrome | 2019-10-01 | criteria provided, single submitter | clinical testing |