ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.204G>A (p.Thr68=)

gnomAD frequency: 0.00003  dbSNP: rs775209130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510787 SCV001717914 benign Hyper-IgM syndrome type 1 2024-01-29 criteria provided, single submitter clinical testing

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