Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000352550 | SCV000483505 | likely benign | Dyskeratosis Congenita, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675890 | SCV001895424 | benign | not provided | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488577 | SCV004233729 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001675890 | SCV005214389 | likely benign | not provided | criteria provided, single submitter | not provided |