ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2244G>C (p.Thr748=)

dbSNP: rs3735131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516109 SCV001724335 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 RCV003487356 SCV004234089 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 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.

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