ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.81A>G (p.Leu27=)

gnomAD frequency: 0.00313  dbSNP: rs36063307
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636650 SCV000758089 benign Hyper-IgM syndrome type 1 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714104 SCV005279593 benign not provided criteria provided, single submitter not provided

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