ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=)

gnomAD frequency: 0.00121  dbSNP: rs141494621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947771 SCV001093958 benign Immunodeficiency, common variable, 2 2024-12-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818940 SCV002066627 benign not specified 2021-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960592 SCV004774557 likely benign TNFRSF13B-related disorder 2020-01-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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