ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2112C>T (p.Ala704=)

gnomAD frequency: 0.00004  dbSNP: rs139679572
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456416 SCV001660195 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-12-17 criteria provided, single submitter clinical testing

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