ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.177C>T (p.Ser59=)

gnomAD frequency: 0.00024  dbSNP: rs144102157
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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 RCV000913794 SCV001058950 likely benign Combined immunodeficiency due to OX40 deficiency 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933021 SCV004750004 likely benign TNFRSF4-related disorder 2019-06-25 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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