ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.410-13T>C

gnomAD frequency: 0.27747  dbSNP: rs3092923
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000603610 SCV001732148 benign Hyper-IgM syndrome type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001619808 SCV001846656 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488729 SCV004232867 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 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603610 SCV000734746 benign Hyper-IgM syndrome type 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001619808 SCV001927072 likely benign not provided no assertion criteria provided clinical testing

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