ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.561G>A (p.Lys187=)

gnomAD frequency: 0.00008  dbSNP: rs373469090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967635 SCV001115029 likely benign Immunodeficiency, common variable, 2 2025-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749570 SCV005345337 likely benign TNFRSF13B-related disorder 2024-03-12 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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