Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001588 | SCV001158996 | likely pathogenic | Immunodeficiency, common variable, 3 | 2018-07-05 | criteria provided, single submitter | clinical testing | The CD19 c.1198+2T>G variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice donor site of intron 8, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic. |