Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455932 | SCV000539549 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Labcorp Genetics |
RCV001513626 | SCV001721275 | benign | Combined immunodeficiency due to LRBA deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653798 | SCV001869869 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000455932 | SCV004102390 | 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 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 30. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001653798 | SCV005305454 | benign | not provided | criteria provided, single submitter | not provided |