ClinVar Miner

Submissions for variant NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) (rs104894774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000011912 SCV000891219 likely pathogenic X-linked hyper-IgM syndrome 2018-08-14 criteria provided, single submitter clinical testing
OMIM RCV000011912 SCV000032145 pathogenic X-linked hyper-IgM syndrome 1993-02-11 no assertion criteria provided literature only

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