ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3139G>A (p.Ala1047Thr)

gnomAD frequency: 0.00020  dbSNP: rs146334064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804742 SCV000944665 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532093 SCV001747491 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing CARD11: PP2, BP4
Breakthrough Genomics, Breakthrough Genomics RCV001532093 SCV005188410 uncertain significance not provided criteria provided, single submitter not provided
ITMI RCV000120453 SCV000084605 not provided not specified 2013-09-19 no assertion provided reference population

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