ClinVar Miner

Submissions for variant NM_001250.6(CD40):c.*119C>T

gnomAD frequency: 0.00004  dbSNP: rs746182207
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001844131 SCV000434134 uncertain significance Hyperimmunoglobulin M syndrome 2016-06-14 criteria provided, single submitter clinical testing

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