ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro)

dbSNP: rs11575982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506850 SCV000602943 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636651 SCV000758090 benign Hyper-IgM syndrome type 1 2024-01-11 criteria provided, single submitter clinical testing

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