ClinVar Miner

Submissions for variant NM_001770.6(CD19):c.1198+2T>G (rs1596718225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001588 SCV001158996 likely pathogenic Common variable immunodeficiency 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.

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