ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1923G>A (p.Arg641=)

gnomAD frequency: 0.00786  dbSNP: rs41405944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974727 SCV001122576 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819146 SCV002069879 benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503103 SCV002813643 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 2021-12-23 criteria provided, single submitter clinical testing

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