ClinVar Miner

Submissions for variant NM_001250.6(CD40):c.647-4_647-3dup

dbSNP: rs749590513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001844130 SCV000434131 uncertain significance Hyperimmunoglobulin M syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653636 SCV001865096 benign not provided 2021-06-19 criteria provided, single submitter clinical testing

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