ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.111C>T (p.Pro37=)

gnomAD frequency: 0.00015  dbSNP: rs200983968
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 RCV000879033 SCV001022041 likely benign Combined immunodeficiency due to OX40 deficiency 2023-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711363 SCV005263029 likely benign not provided criteria provided, single submitter not provided

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