ClinVar Miner

Submissions for variant NM_000074.2(CD40LG):c.-191A>C

gnomAD frequency: 0.02791  dbSNP: rs36206512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003654412 SCV000602938 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000507290 SCV000860098 benign not specified 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001504505 SCV001709385 likely benign Hyper-IgM syndrome type 1 2022-12-02 criteria provided, single submitter clinical testing

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