ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=)

gnomAD frequency: 0.03423  dbSNP: rs35062843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252622 SCV000311930 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359099 SCV000400918 likely benign Common Variable Immune Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252622 SCV000540557 benign 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
Invitae RCV000536341 SCV000649855 benign Immunodeficiency, common variable, 2 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000252622 SCV000884704 benign not specified 2018-07-13 criteria provided, single submitter clinical testing

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