ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.315G>A (p.Thr105=)

gnomAD frequency: 0.00001  dbSNP: rs778398894
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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 RCV001511250 SCV001718460 benign Hyper-IgM syndrome type 1 2023-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900760 SCV004715734 likely benign CD40LG-related disorder 2022-10-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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