ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.220+16C>T

gnomAD frequency: 0.01297  dbSNP: rs41400946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811572 SCV001157465 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510970 SCV001718141 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-31 criteria provided, single submitter clinical testing

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