ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3059C>T (p.Thr1020Met)

gnomAD frequency: 0.00102  dbSNP: rs116583746
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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 RCV000879097 SCV001022107 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884350 SCV004702740 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CARD11: BP4
ITMI RCV000120451 SCV000084603 not provided not specified 2013-09-19 no assertion provided reference population

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