ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.804C>T (p.Ala268=)

gnomAD frequency: 0.00571  dbSNP: rs35160621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537491 SCV000654816 benign Combined immunodeficiency due to OX40 deficiency 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714072 SCV005282553 benign not provided criteria provided, single submitter not provided

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