ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.115C>T (p.Leu39=)

gnomAD frequency: 0.00026  dbSNP: rs34135972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454711 SCV000538419 uncertain significance 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 - OB 10/19/15: Silent variant, 2 bp away from the splice site. Identified in 17/66702 Eur chr in ExAC. LOF in the gene has been associated with hypogammaglobulinemia in one study. Limited evidence for gene-disease association.
Invitae RCV000970643 SCV001118233 likely benign Agammaglobulinemia 4, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424003 SCV004127171 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing BLNK: BP4, BP7

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