ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.438-44C>T

gnomAD frequency: 0.00106  dbSNP: rs376947618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838901 SCV002098586 benign Combined immunodeficiency due to OX40 deficiency 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711732 SCV005262918 likely benign not provided criteria provided, single submitter not provided

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