ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1741G>A (p.Ala581Thr)

gnomAD frequency: 0.00056  dbSNP: rs75403455
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892220 SCV001036082 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-29 criteria provided, single submitter clinical testing
ITMI RCV000120440 SCV000084592 not provided not specified 2013-09-19 no assertion provided reference population

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