Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 | |
Ce |
RCV003424003 | SCV004127171 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | BLNK: BP4, BP7 |