Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001522622 | SCV001732198 | benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597289 | SCV001830344 | benign | not provided | 2021-04-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003399321 | SCV004102164 | 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 49% of patients studied by a panel of primary immunodeficiencies. Number of patients: 47. Only high quality variants are reported. |