Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455910 | SCV000538633 | benign | not specified | 2016-03-28 | 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: MAF |
Labcorp Genetics |
RCV001522852 | SCV001732473 | benign | Lymphoproliferative syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001522852 | SCV001776168 | benign | Lymphoproliferative syndrome 2 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000455910 | SCV004101273 | benign | not specified | 2023-11-02 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV004707270 | SCV005236856 | benign | not provided | criteria provided, single submitter | not provided |