ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)

dbSNP: rs1750932254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255608 SCV001432134 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2018-11-06 criteria provided, single submitter clinical testing This individual has been published in PMID: 32207811.
OMIM RCV001840795 SCV002098410 pathogenic Hyper-IgE recurrent infection syndrome 4A, autosomal dominant 2023-10-05 no assertion criteria provided literature only

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