ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2344C>T (p.Leu782=)

gnomAD frequency: 0.10660  dbSNP: rs3735126
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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 RCV001516108 SCV001724334 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-31 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487355 SCV004234068 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.

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