ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1212G>A (p.Arg404=)

gnomAD frequency: 0.00562  dbSNP: rs142108678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499829 SCV000593827 benign not specified 2020-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555946 SCV000653590 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-31 criteria provided, single submitter clinical testing

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