ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.28C>T (p.Arg10Cys)

gnomAD frequency: 0.00478  dbSNP: rs35304565
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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 RCV000559880 SCV000654812 benign Combined immunodeficiency due to OX40 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714070 SCV005282642 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915623 SCV004729662 benign TNFRSF4-related disorder 2019-10-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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