Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001521546 | SCV001730907 | benign | Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692425 | SCV001910096 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003487400 | SCV004233222 | 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 62% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001692425 | SCV005280433 | benign | not provided | criteria provided, single submitter | not provided |