Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518559 | SCV001727278 | benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003399304 | SCV004102146 | 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 50% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported. |