ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.148T>C (p.Leu50=)

gnomAD frequency: 0.18453  dbSNP: rs1126535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000615122 SCV001722807 benign Hyper-IgM syndrome type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712717 SCV001939379 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001702692 SCV004233243 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 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 58. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615122 SCV000734745 benign Hyper-IgM syndrome type 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702692 SCV001929094 benign not specified no assertion criteria provided clinical testing

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