ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2578G>A (p.Gly860Ser)

gnomAD frequency: 0.00005  dbSNP: rs368181734
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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 RCV000503179 SCV000593826 likely benign not specified 2016-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001424758 SCV001627359 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-31 criteria provided, single submitter clinical testing

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