Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001517533 | SCV001726046 | benign | STING-associated vasculopathy with onset in infancy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001724330 | SCV001950788 | benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21248775, 27927967, 24204993, 29632140) |
Genome Diagnostics Laboratory, |
RCV002264370 | SCV002543040 | benign | Autoinflammatory syndrome | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003399299 | SCV004102221 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 45% of patients studied by a panel of primary immunodeficiencies. Number of patients: 43. Only high quality variants are reported. |