ClinVar Miner

Submissions for variant NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) (rs193922135)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029464 SCV000052114 pathogenic X-linked hyper-IgM syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507366 SCV000602941 pathogenic not specified 2016-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000029464 SCV000893816 pathogenic X-linked hyper-IgM syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092164 SCV001248545 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneReviews RCV000029464 SCV001364081 pathogenic X-linked hyper-IgM syndrome 2020-02-13 no assertion criteria provided literature only

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