ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.687C>A (p.Gly229=)

dbSNP: rs879206506
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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 RCV002095370 SCV002382261 likely benign Combined immunodeficiency due to OX40 deficiency 2024-06-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903324 SCV004720842 likely benign TNFRSF4-related disorder 2019-06-17 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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